2 Biochem

Front 1

Question

Back 1

Answer

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Full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor.

Back 2

PKU.

Front 3

Stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner, and becomes hypoglycemic. mech?

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NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate.

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2-year-old girl has an ↑ in abdominal girth, failure to thrive, and skin and hair depigmentation.

Back 4

Kwashiorkor.

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Alcoholic develops a rash, diarrhea, and altered mental status.

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low Vitamin B3 (pellagra).

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51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing.

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Alkaptonuria.

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25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons.

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Familial hypercholesterolemia;

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A woman complains of intense muscle cramps and darkened urine after exercise.

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McArdle’s disease.

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Two parents with albinism have a son who is normal. . how

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Locus heterogeneity.

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A 40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?

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A, D, E, and K.

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Vitamins name the fat solubles and quick functions

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Vitamin A—Vision Vitamin D—Bone calcification —Ca2+ homeostasis Vitamin K—Clotting factors Vitamin E—Antioxidant

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Vitamins name the water solubles with aka's

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B1 (thiamine: TPP) B2 (riboflavin: FAD, FMN) B3 (niacin: NAD+) B5 (pantothenate: CoA) B6 (pyridoxine: PP) B12 (cobalamin) C (ascorbic acid) Biotin Folate

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Vitamins: water soluble All wash out easily from body except

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B12 and folate

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B-complex deficiencies often result in

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dermatitis, glossitis, and diarrhea.

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Vitamin A aka

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retinol

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Vitamin A (retinol) Deficiency

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Night blindness, dry skin. increased suceptability to measles

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Vitamin A (retinol) Function

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Constituent of visual pigments (retinal).

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Vitamin A (retinol) Excess

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Arthralgias, fatigue, headaches, skin changes, sore throat, alopecia.

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retinol aka

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Vitamin A

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Vitamin A (retinol) source

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Found in leafy vegetables.

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Vitamin A (retinol) mnemonioc

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Retinol is vitamin A, so think Retin-A (used topically for wrinkles and acne).

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Vitamin B aka

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thiamine

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thiamine aka

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Vitamin B

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Vitamin B1 (thiamine) Deficiency

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Beriberi and Wernicke-Korsakoff syndrome. Seen in alcoholism and malnutrition. Spell beriberi as Ber1Ber1.

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Vitamin B1 (thiamine) Function

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In thiamine pyrophosphate, a cofactor for oxidative decarboxylation of α-keto acids (pyruvate, α-ketoglutarate) and a cofactor for transketolase in the HMP shunt.

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Dry beriberi vs Wet beriberi

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Dry beriberi––polyneuritis, muscle wasting. Wet beriberi––high-output cardiac failure (dilated cardiomyopathy), edema.

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Vitamin B2 aka

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riboflavin

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riboflavin aka

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Vitamin B2

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Vitamin B2 (riboflavin) Deficiency

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The 2C’s. Angular stomatitis, Cheilosis, Corneal vascularization.

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Vitamin B2 (riboflavin) Function

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Cofactor in oxidation and reduction (e.g., FADH2). "FAD and FMN are derived from riboFlavin (B2 = 2 ATP)"

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Vitamin B3 aka

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niacin

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niacin aka

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Vitamin B3

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Vitamin B3 (niacin) Deficiency

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Pellagra can be caused by Hartnup disease (↓ tryptophan absorption), malignant carcinoid syndrome (↑ tryptophanmetabolism), and INH (↓ vitamin B6). Pellagra’s symptoms are the 3 D’s: Diarrhea, Dermatitis, Dementia (also beefy glossitis).

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Vitamin B3 (niacin) Function

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Constituent of NAD+, NADP+ (used in redoxreactions). Derived from tryptophan using vitamin B6. NAD derived from Niacin (B3 = 3 ATP).

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Diarrhea, Dermatitis, Dementia (also beefy glossitis).

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Pellagra

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Pellagra’s symptoms

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the 3 D’s: Diarrhea, Dermatitis, Dementia (also beefy glossitis).

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pantothenate aka

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Vitamin B5

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Vitamin B5 aka

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pantothenate

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Vitamin B5 (pantothenate) Deficiency

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Dermatitis, enteritis, alopecia, adrenal insufficiency.

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Vitamin B5 (pantothenate) Function

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Constituent of CoA (a cofactor for acyl transfers) and component of fatty acid synthase. Pantothen-A is in Co-A.

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pyridoxine aka

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Vitamin B6

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Vitamin B6 aka

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pyridoxine

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Vitamin B6 (pyridoxine) Deficiency

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Convulsions, hyperirritability (deficiency inducible by INH and oral contraceptives), peripheral neuropathy.

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Vitamin B6 (pyridoxine) Function

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Converted to pyridoxal phosphate, a cofactor used in transamination (e.g., ALT and AST), decarboxylation, and heme synthesis.

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Vitamin B12 aka

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cobalamin

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cobalamin aka

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Vitamin B12

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Vitamin B12 (cobalamin) Deficiency

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Macrocytic, megaloblastic anemia; neurologic symptoms (optic neuropathy, subacute combined degeneration, paresthesia); glossitis.

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Function

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Cofactor for homocysteine methylation (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA handling.

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Vitamin B12 (cobalamin) source and storage

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Found only in animal products. Stored primarily in the liver. Very large reserve pool (several years).

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Vitamin B12 (cobalamin) causes of deficiency

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Vitamin B12 deficiency is usually caused by malabsorption (sprue, enteritis, Diphyllobothrium latum), lack of intrinsic factor (pernicious anemia), or absence of terminal ileum (Crohn’s disease).

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Vitamin B12 (cobalamin) testing

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Use Schilling test to detect deficiency.

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Vitamin B12 (cobalamin) syntesized by

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Synthesized only by microorganisms.

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schilling test rocess

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the patient is given radiolabeled vitamin B12 to drink A normal result shows at least 5% of the radiolabelled vitamin B12 in the urine over the first 24 hours.

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Folic acid Deficiency

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Macrocytic, megaloblastic anemia (often no neurologic symptoms, as opposed to vitamin B12 deficiency).

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Folic acid Function

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Coenzyme (tetrahydrofolate) for 1-carbon transfer; involved in methylation reactions. Important for the synthesis of nitrogenous bases in DNA and RNA.

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Folic acid source

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FOLate from FOLiage.

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what is PABA and implications

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PABA is the folic acid precursor in bacteria. Sulfa drugs and dapsone (antimicrobials) are PABA analogs.

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the folic acid precursor in bacteria

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PABA

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Most common vitamin deficiency in the United States.

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Folic acid

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Biotin Deficiency

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Dermatitis, enteritis. Caused by antibiotic use, ingestion of raw eggs. “AVIDin in egg whites AVIDly binds biotin.”

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Biotin Function

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Cofactor for carboxylations: 1. Pyruvate → oxaloacetate 2. Acetyl-CoA → malonyl-CoA 3. Proprionyl-CoA → methylmalonyl-CoA

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Vitamin C (ascorbic acid) Deficiency

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Scurvy––swollen gums, bruising, anemia, poor wound healing.

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Vitamin C (ascorbic acid) Function

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Necessary for hydroxylation of proline and lysine in collagen synthesis. Facilitates iron absorption by keeping iron in Fe+2 reduced state (more absorbable) Necessary as a cofactor for dopamine →NE.

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Vitamin C (ascorbic acid) role in collagen formation

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Vitamin C Cross-links Collagen. Necessary for hydroxylation of proline and lysine in collagen synthesis.

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Vitamin D different forms and locations

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D2 = ergocalciferol, consumed in milk. D3 = cholecalciferol, formed in sun-exposed skin. 25-OH D3 = storage form. 1,25 (OH)2 D3 = active form.

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Vitamin D Deficiency

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Rickets in children (bending bones), osteomalacia in adults (soft bones), and hypocalcemic tetany.

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Vitamin D Function

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↑ intestinal absorption of calcium and phosphate.

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Vitamin D Excess

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Hypercalcemia, loss of appetite, stupor. Seen in sarcoidosis, a disease where the epithelioid macrophages convert vitamin D into its active form.

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Vitamin E Deficiency

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Increased fragility of erythrocytes, neurodysfunction. Vitamin E is for Erythrocytes.

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Vitamin E Function

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Antioxidant (protects erythrocytes from hemolysis). Vitamin E is for Erythrocytes.

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Vitamin K Deficiency

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Neonatal hemorrhage with ↑ PT and ↑ aPTT but normal bleeding time,

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Vitamin K Function

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Catalyzes γ-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.

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Vitamin K Deficiency who is most vulnerable and why

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because neonates have sterile intestines and are unable to synthesize vitamin K.

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Vitamin K source

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Synthesized by intestinal flora. Therefore, vitamin K deficiency can occur after the prolonged use of broad-spectrum antibiotics.

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the vitamin K–dependent clotting factors are

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II, VII, IX, X,

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Zinc deficiency

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Delayed wound healing, hypogonadism, ↓ adult hair (axillary, facial, pubic); may predispose to alcoholic cirrhosis.

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Delayed wound healing, hypogonadism, ↓ adult hair (axillary, facial, pubic); may predispose to alcoholic cirrhosis.

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Zinc deficiency

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Night blindness, dry skin.

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Vitamin A (retinol) Deficiency

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Beriberi and Wernicke-Korsakoff syndrome

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Vitamin B1 (thiamine) Deficiency

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A, D, E, K. Absorption dependent on

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gut (ileum) and pancreas.

Front 81

Angular stomatitis, Cheilosis, Corneal vascularization.

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Vitamin B2 (riboflavin) Deficiency

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Dermatitis, enteritis, alopecia, adrenal insufficiency.

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Vitamin B5 (pantothenate) Deficiency

Front 83

Convulsions, hyperirritability (deficiency inducible by INH and oral contraceptives), peripheral neuropathy.

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Vitamin B6 (pyridoxine) Deficiency

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Macrocytic, megaloblastic anemia; neurologic symptoms (optic neuropathy, subacute combined degeneration, paresthesia); glossitis.

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Vitamin B12 (cobalamin) Deficiency

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Macrocytic, megaloblastic anemia (often no neurologic symptoms, as opposed to vitamin B12 deficiency).

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Folic acid Deficiency

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Dermatitis, enteritis. Caused by antibiotic use,

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Biotin Deficiency

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Increased fragility of erythrocytes, neurodysfunction.

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Vitamin E Deficiency

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Ethanol metabolism limiting reagent

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NAD+ is the limiting reagent.

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Disulfiram (Antabuse) mech

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inhibits acetaldehyde dehydrogenase (acetaldehyde accumulates, contributing to hangover symptoms).

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Disulfiram aka

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Antabuse

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Antabuse

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Disulfiram

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Ethanol hypoglycemia mech

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Ethanol metabolism ↑ NADH/NAD+ ratio in liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis

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fatty change mech

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↑ NADH/NAD+ ratio in liver with shunting away from glycolysis and toward fatty acid synthesis

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Kwashiorkor causes

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Kwashiorkor results from a protein-deficient MEAL: Malabsorption Edema Anemia Liver (fatty)

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Kwashiorkor

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protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change). Clinical picture is small child with swollen belly.

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protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change). Clinical picture is small child with swollen belly.

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Kwashiorkor

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Marasmus

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energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema.

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energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema.

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Marasmus

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Chromatin structure

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(−) charged DNA loops twice around nucleosome core (2 each of the (+) charged H2A, H2B, H3, and H4) to form nucleosome bead.H1 ties nucleosomes together in a string (30-nm fiber).

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the only histone that is not in the nucleosome core.

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H1 is

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H1 is

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the only histone that is not in the nucleosome core.

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Heterochromatin

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Condensed, transcriptionally inactive Chromatin

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Condensed, transcriptionally inactive Chromatin

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Heterochromatin

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Less condensed, transcriptionally active Chromatin

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Euchromatin

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Euchromatin

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Less condensed, transcriptionally active Chromatin

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Nucleotides ring number

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Purines (A, G) have 2 rings. Pyrimidines (C, T, U) have 1 ring.

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Deamination of ???? makes uracil.

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cytosine

Front 108

Deamination of cytosine makes ????.

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uracil.

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Amino acids necessary for purine synthesis:

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Glycine Aspartate Glutamine

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which Nucleotide has a methyl

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Thymine

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which Nucleotide has a ketone

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Guanine

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Nucleotides which are which

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-Purines (A, G) PURe As Gold: PURines. -Pyrimidines (C, T, U) CUT the PY (pie): PYrimidines.

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Nucleotides (base + ribose + phosphate) are linked by

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3′-5′ phosphodiester bond.

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Nucleotides are made of what three things

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base + ribose + phosphate

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Nucleotides Transition vs. transversion

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Transition-Substituting purine for purine or pyrimidine for pyrimidine. ( TransItion = Identical type.) Transversion Substituting purine for pyrimidine or visa versa. (TransVersion = conVersion between types).

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Genetic code features and exceptions Unambiguous

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Each codon specifies only one amino acid. no exceptions

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Genetic code features and exceptions Degenerate/redundant

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More than one codon may code for the same amino acid. Methionine encoded by only one codon.

Front 118

Genetic code features and exceptions Commaless, nonoverlapping

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Read from a fixed starting point as a continuous sequence of bases. Some viruses are an exception.

Front 119

Genetic code features and exceptions Universal

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Genetic code is conserved throughout evolution. Exceptions include mitochondria, archaebacteria, Mycoplasma, and some yeasts.

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Mutations in DNA Silent

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Same aa, often base change in 3rd position of codon (tRNA wobble).

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Mutations in DNA Same aa, often base change in 3rd position of codon (tRNA wobble).

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Silent

Front 122

Mutations in DNA Missense

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Changed aa (conservative––new aa is similar in chemical structure).

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Mutations in DNA Changed aa (conservative––new aa is similar in chemical structure).

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Missense

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Mutations in DNA Nonsense

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Change resulting in early stop codon.

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Mutations in DNA Change resulting in early stop codon.

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Nonsense

Front 126

Mutations in DNA Frame shift

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Change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein.

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Mutations in DNA Change resulting in misreading of all nucleotides downstream, usually resulting in a truncated protein.

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Frame shift

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point Mutations in DNA Severity of damage

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Severity of damage: nonsense > missense > silent.

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DNA replication and DNA polymerases who has multiple origins of replication.

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Eukaryotic genome

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DNA replication and DNA polymerases Eukaryotes Replication begins at

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Replication begins at a consensus sequence of AT-rich base pairs.

Front 131

DNA replication and DNA polymerases who has Single origin of replication

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Prokaryotes

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DNA replication and DNA polymerases Create a nick in the helix to relieve supercoils.

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DNA topoisomerases

Front 133

DNA replication and DNA polymerases function/activity of DNA topoisomerases

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Create a nick in the helix to relieve supercoils.

Front 134

DNA replication and DNA polymerases Makes an RNA primer on which DNA polymerase III can initiate replication.

Back 134

Primase

Front 135

DNA replication and DNA polymerases function/activity of Primase

Back 135

Makes an RNA primer on which DNA polymerase III can initiate replication.

Front 136

DNA replication and DNA polymerases Elongates the chain by adding deoxynucleotides to the 3′ end until it reaches primer of preceding fragment. 3′→ 5′ exonuclease activity “proofreads” each added nucleotide.

Back 136

DNA polymerase III

Front 137

DNA replication and DNA polymerases function/activity of DNA polymerase III

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Elongates the chain by adding deoxynucleotides to the 3′ end until it reaches primer of preceding fragment. 3′→ 5′ exonuclease activity “proofreads” each added nucleotide.

Front 138

DNA replication and DNA polymerases Degrades RNA primer and fills in the gap with DNA.

Back 138

DNA polymerase I

Front 139

DNA replication and DNA polymerases function/activity of DNA polymerase I

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Degrades RNA primer and fills in the gap with DNA.

Front 140

DNA replication and DNA polymerases Seals.

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DNA ligase

Front 141

DNA replication and DNA polymerases function/activity of DNA ligase

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Seals.

Front 142

??????? has 5′→ 3′ synthesis and proofreads with 3′→ 5′ exonuclease.

Back 142

DNA polymerase III

Front 143

??????? excises RNA primer with 5′→ 3′ exonuclease.

Back 143

DNA polymerase I

Front 144

DNA repair Nucleotide excision repair

Back 144

Specific endonucleases release the oligonucleotide- containing damaged bases; DNA polymerase and ligase fill and reseal the gap, respectively.

Front 145

DNA repair Specific endonucleases release the oligonucleotide- containing damaged bases; DNA polymerase and ligase fill and reseal the gap, respectively.

Back 145

Nucleotide excision repair

Front 146

DNA repair Base excision repair

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Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site, empty sugar is removed, and the gap is filled and resealed.

Front 147

DNA repair Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site, empty sugar is removed, and the gap is filled and resealed.

Back 147

Base excision repair

Front 148

DNA repair mutation in Nucleotide excision repair

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Mutated in xeroderma pigmentosa (dry skin with melanoma and other cancers).

Front 149

DNA repair mutation in xeroderma pigmentosa

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Nucleotide excision repair

Front 150

DNA repair Base excision repair

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Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site, empty sugar is removed, and the gap is filled

Front 151

DNA repair Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site, empty sugar is removed, and the gap is filled

Back 151

Base excision repair

Front 152

Mismatch repair

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Unmethylated, newly synthesized string is recognized, M mismatched nucleotides are remove, and the gap is filled and resealed.

Front 153

DNA repair Unmethylated, newly synthesized string is recognized, M mismatched nucleotides are remove, and the gap is filled and resealed.

Back 153

Mismatch repair

Front 154

DNA repair Mutation in hereditary nonpolyposis colon cancer.

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Mismatch repair

Front 155

DNA repair Nonhomologous end joining

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Brings together two ends of DNA fragments. No requirement for homology.

Front 156

DNA repair Brings together two ends of DNA fragments. No requirement for homology.

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Nonhomologous end joining

Front 157

DNA/RNA synthesis direction

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DNA and RNA are both synthesized 5′→ 3′. Remember that the 5′ of the incoming nucleotide bears the triphosphate (energy source for bond). The 3′ hydroxyl of the nascent chain is the target.

Front 158

protein synth synthesis direction

Back 158

Protein synthesis also proceeds in the 5′ to 3′ direction. Amino acids are linked N to C.

Front 159

Types of RNA and descriptions

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Massive, Rampant, Tiny. mRNA is the largest type of RNA. rRNA is the most abundant type of RNA. tRNA is the smallest type of RNA.

Front 160

RNA polymerases Eukaryotes I,II,III

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RNA polymerase I makes rRNA. RNA polymerase II makes mRNA. RNA polymerase III makes tRNA.

Front 161

RNA polymerases Prokaryotes

Back 161

RNA polymerase (multisubunit complex) makes all 3 kinds of RNA.

Front 162

α-amanitin

Back 162

found in death cap mushrooms. inhibits RNA polymerase II.

Front 163

found in death cap mushrooms. inhibits RNA polymerase II.

Back 163

α-amanitin

Front 164

RNA polymerases proofreading

Back 164

No proofreading function, but can initiate chains.

Front 165

???? opens DNA at promoter site

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RNA polymerase II opens DNA at promoter site

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mRNA initiation codons

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AUG (or rarely GUG). AUG inAUGurates protein synthesis.

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mRNA stop codons

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UGA = U Go Away. UAA = U Are Away. UAG = U Are Gone.

Front 168

Promoter

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Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus (AT-rich upstream sequence with TATA and CAAT boxes).

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Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus (AT-rich upstream sequence with TATA and CAAT boxes).

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Promoter

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Stretch of DNA that alters gene expression by binding transcription factors. May be located close to, far from, or even within (in an intron) the gene whose expression it regulates.

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Enhancer

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Enhancer

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Stretch of DNA that alters gene expression by binding transcription factors. May be located close to, far from, or even within (in an intron) the gene whose expression it regulates.

Front 172

Promoter mutation commonly results in

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dramatic ↓ in amount of gene transcribed.

Front 173

Site where negative regulators (repressors) bind.

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Operator

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Operator

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Site where negative regulators (repressors) bind.

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Introns vs. exons

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Exons contain the actual genetic information coding for protein. Introns are intervening noncoding segments of DNA.

Front 176

Splicing of mRNA steps

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➀ Primary transcript combines with snRNPs to form spliceosome. ➁ Lariat-shaped intermediate is generated. ➂ Lariat is released to remove intron precisely and join two exons.

Front 177

RNA processing (eukaryotes) where

Back 177

Occurs in nucleus. After transcription:

Front 178

RNA processing (eukaryotes) steps

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1. Capping on 5′ end (7-methyl-G) 2. Polyadenylation on 3′ end (≈ 200 A’s) 3. Splicing out of introns

Front 179

RNA processing (eukaryotes) names

Back 179

Initial transcript is called heterogeneous nuclear RNA (hnRNA). Capped and tailed transcript is called mRNA.

Front 180

Only ???????? RNA is transported out of the nucleus.

Back 180

processed

Front 181

RNA processing (eukaryotes) wrt transport

Back 181

Only processed RNA is transported out of the nucleus.

Front 182

tRNA Structure

Back 182

75–90 nucleotides, cloverleaf form, anticodon end is opposite 3′ aminoacyl end. All tRNAshave CCA at 3′ end where aa's are bound

Front 183

tRNA Charging

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Aminoacyl-tRNA synthetase (1 per aa, uses ATP)

Front 184

where is error protection in protein synthesis

Back 184

in TRNA charging. once aa is on there it will put on a wrong aa

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Protein synthesis Initiation

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Initiation factors (IFs) help assemble the 30S ribosomal subunit with the initiator tRNA, are released when the mRNA and the ribosomal subunit assemble with the complex.

Front 186

Protein synthesis elongation steps

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1. Aminoacyl tRNA binds to A site. 2. Peptidyltransferase catalyzes peptide bond formation, transfers growing polypeptide to ami acid in A site. 3. Ribosome advances three nucleotides toward 3′ end of RNA, moving peptidyl RNA to P site.

Front 187

Protein synthesis A site

Back 187

A site = incoming Aminoacyl tRNA.

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Protein synthesis P site

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P site = accommodates growing Peptide.

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Protein synthesis E site

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E site = holds Empty tRNA as it Exits.

Front 190

Protein synthesis ATP vs GTP

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ATP—tRNA Activation (charging). GTP—tRNA Gripping and Going places (translocation).

Front 191

Posttranslational modifications Trimming

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Removal of N- or C-terminal pro-peptides from zymogens to generate mature proteins.

Front 192

Posttranslational modifications Covalent alterations

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Phosphorylation, glycosylation, and hydroxylation.

Front 193

Posttranslational modifications Proteasomal degradation

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Attachment of ubiquitin to defective proteins to tag them for breakdown.

Front 194

Cell cycle phases shortest phase

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Mitosis

Front 195

Cell cycle phases Permanent cells what and examples

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Remain in G0, regenerate from stem cells. Never go to G0, divide rapidly with a short G1.

Front 196

Cell cycle phases Stable cells what and examples

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Enter G1 from G0 when stimulated. Hepatocytes, lymphocytes.

Front 197

Cell cycle phases Labile cells what and examples

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Never go to G0, divide rapidly with a short G1. Bone marrow, gut epithelium, skin, hair follicles.

Front 198

Checkpoints control transitions between phases. Regulated by

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cyclins, cdks, and tumor suppressors.

Front 199

RER is the site of

Back 199

synthesis of secretory (exported) proteins and of N-linked oligosaccharide addition to many proteins.

Front 200

the site of synthesis of secretory (exported) proteins and of N-linked oligosaccharide addition to many proteins.

Back 200

RER

Front 201

Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells are rich in

Back 201

RER.

Front 202

what cells are particularly rich in RER.

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Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells

Front 203

SER is the site of

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steroid synthesis and detoxification of drugs and poisons.

Front 204

the site of steroid synthesis and detoxification of drugs and poisons.

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SER

Front 205

what cells are particularly rich in SER.

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Liver hepatocytes and steroid hormone–producing cells of the adrenal cortex

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Liver hepatocytes and steroid hormone–producing cells of the adrenal cortex are rich in

Back 206

SER.

Front 207

6 Functions of Golgi apparatus

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1. Distribution center of proteins and lipids from ER to the plasma membrane, lysosomes, and secretory vesicles 2. Modifies N-oligosaccharides 3. Adds O-oligosaccharides 4. Addition of mannose-6-phosphate 5. Proteoglycan assembly 6. Sulfation

Front 208

I-cell disease mech

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failure of addition of mannose-6-phosphate to lysosome proteins, enzymes are secreted outside the cell instead of being targeted to the lysosome.

Front 209

failure of addition of mannose-6-phosphate to lysosome proteins, enzymes are secreted outside the cell instead of being targeted to the lysosome.

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I-cell disease:

Front 210

I-cell disease clinical findings

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Characterized by coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood.

Front 211

Characterized by coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood.

Back 211

I-cell disease clinical findings

Front 212

Vesicular trafficking proteins: COP I

Back 212

Retrograde, Golgi → ER.

Front 213

Vesicular trafficking proteins: Retrograde, Golgi → ER.

Back 213

COP I

Front 214

Vesicular trafficking proteins: COP II

Back 214

Anterograde, RER → cis-Golgi.

Front 215

Vesicular trafficking proteins: Anterograde, RER → cis-Golgi.

Back 215

COP II

Front 216

Vesicular trafficking proteins: Clathrin

Back 216

trans-Golgi → lysosomes, plasma membrane → endosomes (receptor-mediated endocytosis).

Front 217

Vesicular trafficking proteins: trans-Golgi → lysosomes, plasma membrane → endosomes (receptor-mediated endocytosis).

Back 217

Clathrin

Front 218

Microtubule structure

Back 218

Cylindrical structure 24 nm in diameter and of variable length. A helical array of polymerized dimers of α- and β-tubulin (13 per circumference). Each dimer has 2 GTP bound.

Front 219

Microtubule functions

Back 219

has 2 GTP bound. Incorporated into flagella, cilia, mitotic spindles.Microtubules are also involved in slow axoplasmic transport in neurons.

Front 220

Microtubule speeds

Back 220

Grows slowly, collapses quickly.

Front 221

Drugs that act on microtubules:

Back 221

1. Mebendazole/thiabendazole (antihelminthic) 2. Taxol (anti–breast cancer) 3. Griseofulvin (antifungal) 4. Vincristine/vinblastine (anti-cancer) 5. Colchicine (anti-gout)

Front 222

is due to a microtubule polymerization defect resulting in ↓ phagocytosis.

Back 222

Chédiak-Higashi syndrome

Front 223

Chédiak-Higashi syndrome mech

Back 223

is due to a microtubule polymerization defect resulting in ↓ phagocytosis.

Front 224

Cilia structure

Back 224

9 + + 2 arrangement of microtubules. Dynein is an ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets.

Front 225

9 + + 2 arrangement of microtubules. Dynein is an ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets.

Back 225

Cilia structure

Front 226

Molecular motors Dynein = Kinesin =

Back 226

Molecular motors Dynein = retrograde. Kinesin = anterograde.

Front 227

Molecular motors retrograde. anterograde.

Back 227

Molecular motors Dynein = retrograde. Kinesin = anterograde.

Front 228

Kartagener’s syndrome mech and clinical findings

Back 228

Immotile cilia due to a dynein arm defect. Results in male and female infertility (sperm immotile), bronchiectasis, and recurrent sinusitis (bacteria and particles not pushed out); associated with situs inversus.

Front 229

Plasma membrane composition with %'s

Back 229

Asymmetric fluid bilayer. Contains cholesterol (~50%), phospholipids (~50%), sphingolipids, glycolipids, and proteins.

Front 230

Plasma membrane wrt cholesterol

Back 230

High cholesterol or long saturated fatty acid content → increased melting temperature.

Front 231

Phosphatidylcholine aka

Back 231

lecithin

Front 232

lecithin aka

Back 232

Phosphatidylcholine

Front 233

Phosphatidylcholine (lecithin) function

Back 233

Major component of RBC membranes, of myelin, bile, and surfactant (DPPC– dipalmitoyl PC). Used in esterification of cholesterol (LCAT is lecithin-cholesterol acyltransferase).

Front 234

Major component of RBC membranes, of myelin, bile, and surfactant

Back 234

Phosphatidylcholine (lecithin)

Front 235

Na+-K+ATPase location and orientation

Back 235

Na+-K+ATPase is located in the plasma membrane with ATP site on cytoplasmic side. For each ATP consumed, 3 Na+ go out and 2 K+ come in.

Front 236

Ouabain mech

Back 236

inhibits Na+-K+ATPase by binding to K+ site.

Front 237

inhibits Na+-K+ATPase by binding to K+ site

Back 237

Ouabain

Front 238

Na+-K+ATPase wrt cardiac glycosides

Back 238

Cardiac glycosides (digoxin, digitoxin) also inhibit the Na+-K+ATPase, causing ↑ cardiac contractility. 2K+

Front 239

Most abundant protein in the human body.

Back 239

Collagen

Front 240

Collagen how common

Back 240

Most abundant protein in the human body.

Front 241

Collagen general function

Back 241

Organizes and strengthens extracellular matrix.

Front 242

Organizes and strengthens extracellular matrix.

Back 242

Collagen

Front 243

Collagen Types Type I

Back 243

(90%)––Bone, Skin, Tendon, dentin, fascia, cornea, late wound repair.

Front 244

Collagen Types Bone, Skin, Tendon, dentin, fascia, cornea, late wound repair.

Back 244

Type I

Front 245

Collagen Types Type II

Back 245

Cartilage (including hyaline), vitreous body, nucleus pulposus. Type II: carTWOlage.

Front 246

Collagen Types Cartilage (including hyaline), vitreous body, nucleus pulposus.

Back 246

Type II Type II: carTWOlage.

Front 247

Collagen Types Type III (Reticulin)

Back 247

skin, blood vessels, uterus, fetal tissue, granulation tissue.

Front 248

Collagen Types skin, blood vessels, uterus, fetal tissue, granulation tissue.

Back 248

Type III (Reticulin)

Front 249

Collagen Types Type IV

Back 249

Basement membrane or basal lamina. Type IV: Under the floor (basement membrane)..

Front 250

Collagen Types Basement membrane or basal lamina.

Back 250

Type IV Type IV: Under the floor (basement membrane).

Front 251

Collagen Type III aka

Back 251

Reticulin

Front 252

Reticulin aka

Back 252

Type III Collagen

Front 253

Collagen synthesis and structure steps inside fibroblasts and where inside of them

Back 253

1. Synthesis (RER) 2. Hydroxylation (ER) 3. Glycosylation (Golgi) 4. Exocytosis

Front 254

Collagen synthesis and structure steps outside fibroblasts

Back 254

5. Proteolytic processing 6. Cross-linking

Front 255

Collagen synthesis and structure Synthesis (RER)

Back 255

Translation of collagen α chains (preprocollagen)— usually Gly-X-Y polypeptide (X and Y are proline, hydroxyproline, or hydroxylysine).

Front 256

Collagen synthesis and structure Translation of collagen α chains (preprocollagen)— usually Gly-X-Y polypeptide (X and Y are proline, hydroxyproline, or hydroxylysine).

Back 256

1. Synthesis (RER)

Front 257

Collagen synthesis and structure Hydroxylation of specific proline and lysine residues (requires vitamin C).

Back 257

2. Hydroxylation (ER)

Front 258

Collagen synthesis and structure Hydroxylation (ER)

Back 258

Hydroxylation of specific proline and lysine residues (requires vitamin C).

Front 259

Collagen synthesis and structure Glycosylation of pro-α-chain lysine residues and formation of procollagen (triple helix of three collagen α chains).

Back 259

Glycosylation (Golgi)

Front 260

Collagen synthesis and structure Glycosylation (Golgi)

Back 260

Glycosylation of pro-α-chain lysine residues and formation of procollagen (triple helix of three collagen α chains).

Front 261

Collagen synthesis and structure Exocytosis of procollagen into extracellular space.

Back 261

4. Exocytosis

Front 262

Collagen synthesis and structure 4. Exocytosis

Back 262

Exocytosis of procollagen into extracellular space.

Front 263

Collagen synthesis and structure 5. Proteolytic processing

Back 263

Cleavage of terminal regions of procollagen transforms it into insoluble tropocollagen.

Front 264

Collagen synthesis and structure Cleavage of terminal regions of procollagen transforms it into insoluble tropocollagen.

Back 264

5. Proteolytic processing

Front 265

Collagen synthesis and structure 6. Cross-linking

Back 265

Reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross-linkage (by lysyl oxidase) to make col- lagen fibrils.

Front 266

Collagen synthesis and structure Reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross-linkage (by lysyl oxidase) to make col- lagen fibrils.

Back 266

6. Cross-linking

Front 267

Ehlers-Danlos syndrome mech and clinical findings

Back 267

Faulty collagen synthesis (Type III is most frequently affected (resulting in blood vessel instability) causing: 1. Hyperextensible skin 2. Tendency to bleed (easy bruising) 3. Hypermobile joints 4.Associated with berry aneurysms.

Front 268

Osteogenesis imperfecta 4 findings

Back 268

1. Multiple fractures 2. Blue sclerae 3. Hearing loss (abnormal middle ear bones) 4. Dental imperfections due to lack of dentition

Front 269

Osteogenesis imperfecta worst type and findings

Back 269

Type II is fatal in utero or in the neonatal period.

Front 270

5 Immunohistochemical stains and associated cell types

Back 270

Vimentin - Connective tissue Desmin - Muscle Cytokeratin - Epithelial cells Glial fibrillary acid proteins (GFAP) - Neuroglia Neurofilaments - Neurons

Front 271

Stretchy protein within lungs, large arteries, elastic ligaments.

Back 271

Elastin

Front 272

Elastin what and where

Back 272

Stretchy protein within lungs, large arteries, elastic ligaments.

Front 273

Elastin structure

Back 273

Rich in proline and lysine, nonhydroxylated forms.

Front 274

Elastin wrt diseases

Back 274

Emphysema can be caused by excess elastase activity.

Front 275

????? inhibits elastase.

Back 275

α1-antitrypsin

Front 276

α1-antitrypsin inhibits ??????

Back 276

elastase.

Front 277

Marfan’s syndrome is caused by a defect in?

Back 277

fibrillin.

Front 278

Metabolism sites Mitochondria only

Back 278

Fatty acid oxidation (β-oxidation), acetyl-CoA production, Krebs cycle.

Front 279

Metabolism sites Cytoplasm only

Back 279

Glycolysis, fatty acid synthesis, HMP shunt, protein synthesis (RER), steroid synthesis (SER).

Front 280

Metabolism sites Both Mitochondria and Cytoplasm

Back 280

heme synthesis, urea cycle, Gluconeogenesis, "HUGs take 2"

Front 281

Aerobic metabolism of glucose produces ???? via malate shuttle,

Back 281

38 ATP

Front 282

Aerobic metabolism of glucose produces ???? via G3P shuttle.

Back 282

36

Front 283

Aerobic metabolism of glucose produces 38 ATP via

Back 283

malate shuttle

Front 284

Aerobic metabolism of glucose produces 36 ATP via

Back 284

G3P shuttle.

Front 285

Anaerobic glycolysis produces ???? per glucose molecule.

Back 285

only 2 net ATP

Front 286

Activated carriers (what carries/what is carried by) ATP

Back 286

Phosphoryl

Front 287

Activated carriers (what carries/what is carried by) Phosphoryl

Back 287

(ATP).

Front 288

Activated carriers (what carries/what is carried by) Electrons

Back 288

(NADH, NADPH, FADH2).

Front 289

Activated carriers (what carries/what is carried by) NADH, NADPH, FADH2

Back 289

Electrons

Front 290

Activated carriers (what carries/what is carried by) Acyl

Back 290

(coenzyme A, lipoamide).

Front 291

Activated carriers (what carries/what is carried by) coenzyme A

Back 291

Acyl

Front 292

Activated carriers (what carries/what is carried by) lipoamide

Back 292

Acyl

Front 293

Activated carriers (what carries/what is carried by) CO2

Back 293

biotin

Front 294

Activated carriers (what carries/what is carried by) biotin

Back 294

CO2

Front 295

Activated carriers (what carries/what is carried by) 1-carbon units

Back 295

(tetrahydrofolates).

Front 296

Activated carriers (what carries/what is carried by) tetrahydrofolates

Back 296

1-carbon units

Front 297

Activated carriers (what carries/what is carried by) CH3 groups

Back 297

(SAM).

Front 298

Activated carriers (what carries/what is carried by) SAM

Back 298

CH3 groups

Front 299

Activated carriers (what carries/what is carried by) TPP

Back 299

Aldehydes

Front 300

Activated carriers (what carries/what is carried by) Aldehydes

Back 300

(TPP).

Front 301

Rate-determining enzymes of metabolic processes (process/enzyme) De novo pyrimidine synthesis

Back 301

Aspartate transcarbamylase (ATCase)

Front 302

Rate-determining enzymes of metabolic processes (process/enzyme) Aspartate transcarbamylase (ATCase)

Back 302

De novo pyrimidine synthesis

Front 303

Rate-determining enzymes of metabolic processes (process/enzyme) De novo purine svnthesis

Back 303

Glutamine-PRPP amidotransferase

Front 304

Rate-determining enzymes of metabolic processes (process/enzyme) Glutamine-PRPP amidotransferase

Back 304

De novo purine svnthesis

Front 305

Rate-determining enzymes of metabolic processes (process/enzyme) Glycolysis

Back 305

PFK-1

Front 306

Rate-determining enzymes of metabolic processes (process/enzyme) PFK-1

Back 306

Glycolysis

Front 307

Rate-determining enzymes of metabolic processes (process/enzyme) F 1,6-bisphosphotase (FBP-1)

Back 307

Gluconeogenesis

Front 308

Rate-determining enzymes of metabolic processes (process/enzyme) Gluconeogenesis

Back 308

F 1,6-bisphosphotase (FBP-1)

Front 309

Rate-determining enzymes of metabolic processes (process/enzyme) TCA cycle

Back 309

lsocitrate dehydrogenase

Front 310

Rate-determining enzymes of metabolic processes (process/enzyme) lsocitrate dehydrogenase

Back 310

TCA cycle

Front 311

Rate-determining enzymes of metabolic processes (process/enzyme) Glycogen synthesis

Back 311

Glycogen synthase

Front 312

Rate-determining enzymes of metabolic processes (process/enzyme) Glycogen synthase

Back 312

Glycogen synthesis

Front 313

Rate-determining enzymes of metabolic processes (process/enzyme) Glycogenolysis

Back 313

Glycogen phosphorylase

Front 314

Rate-determining enzymes of metabolic processes (process/enzyme) Glycogen phosphorylase

Back 314

Glycogenolysis

Front 315

Rate-determining enzymes of metabolic processes (process/enzyme) HMP shunt

Back 315

Glucose-6-phosphate dehydrogenase (G6PD)

Front 316

Rate-determining enzymes of metabolic processes (process/enzyme) Glucose-6-phosphate dehydrogenase (G6PD)

Back 316

HMP shunt

Front 317

Rate-determining enzymes of metabolic processes (process/enzyme) Fatty acid synthesis

Back 317

Acetyl-CoA carboxylase (ACC)

Front 318

Rate-determining enzymes of metabolic processes (process/enzyme) Acetyl-CoA carboxylase (ACC)

Back 318

Fatty acid synthesis

Front 319

Rate-determining enzymes of metabolic processes (process/enzyme) Fatty acid oxidation

Back 319

Carnitine a~~ltransferase I

Front 320

Rate-determining enzymes of metabolic processes (process/enzyme) Carnitine a~~ltransferase I

Back 320

Fatty acid oxidation

Front 321

Rate-determining enzymes of metabolic processes (process/enzyme) Ketogenesis

Back 321

HMG-CoA synthase

Front 322

Rate-determining enzymes of metabolic processes (process/enzyme) HMG-CoA synthase

Back 322

Ketogenesis

Front 323

Rate-determining enzymes of metabolic processes (process/enzyme) HMG-CoA reductase

Back 323

Cholesterol synthesis

Front 324

Rate-determining enzymes of metabolic processes (process/enzyme) Cholesterol synthesis

Back 324

HMG-CoA reductase

Front 325

Rate-determining enzymes of metabolic processes (process/enzyme) Heme synthesis

Back 325

ALA synthase

Front 326

Rate-determining enzymes of metabolic processes (process/enzyme) ALA synthase

Back 326

Heme synthesis

Front 327

Rate-determining enzymes of metabolic processes (process/enzyme) Carbamoyl phosphate synthase I

Back 327

Urea cycle

Front 328

Rate-determining enzymes of metabolic processes (process/enzyme) Urea cycle

Back 328

Carbamoyl phosphate synthase I

Front 329

ATP + methionine →

Back 329

S-adenosyl- methionine (SAM)

Front 330

SAM function/regeneration

Back 330

SAM the methyl donor man. SAM transfers methyl units. Regeneration of methionine (and thus SAM) is dependent on vitamin B12.

Front 331

Universal electron acceptors

Back 331

Nicotinamides (NAD+, NADP+) and flavin nucleotides (FAD+).

Front 332

NADPH is a product of

Back 332

the HMP shunt.

Front 333

NAD+ is generally used in

Back 333

catabolic processes to carry reducing equivalents away as NADH.

Front 334

NADPH is generally used in

Back 334

anabolic processes (steroid and fatty acid synthesis) as a supply of reducing equivalents.

Front 335

NADPH is used in:

Back 335

1. Anabolic processes 2. Respiratory burst 3. P-450

Front 336

?????is used in: 1. Anabolic processes 2. Respiratory burst 3. P-450

Back 336

NADPH

Front 337

Hexokinase WRT locations, affinity, capacity, inhibition

Back 337

(ubiquitous) High affinity, low capacity. Feedback inhibited by glucose-6- phosphate.

Front 338

Glucokinase WRT locations, affinity, capacity, inhibition

Back 338

(liver) Low affinity, high capacity. No feedback inhibition.

Front 339

Glucokinase role

Back 339

Phosphorylates excess glucose (e.g., after a meal) to sequester it in the liver.

Front 340

Phosphorylates excess glucose (e.g., after a meal) to sequester it in the liver.

Back 340

Glucokinase

Front 341

the most potent activator of phosphofructokinase (how strong)

Back 341

F2,6BP (overrides inhibition by ATP and citrate).

Front 342

Glycolytic enzyme deficiency %'s

Back 342

Pyruvate kinase (95%), glucose phosphate (4%),

Front 343

Glycolytic enzyme deficiency clinical findings (why)

Back 343

Associated with hemolytic anemia. RBCs metabolize glucose anaerobically (no mitochondria) and thus depend solely on glycolysis.

Front 344

Pyruvate dehydrogenase complex cofactors

Back 344

1. Pyrophosphate (B1, thiamine; TPP) 2. FAD (B2, riboflavin) 3. NAD (B3, niacin) 4. CoA (B5, pantothenate) 5. Lipoic acid

Front 345

Pyruvate dehydrogenase complex is similar to

Back 345

α-ketoglutarate dehydrogenase complex (same cofactors, similar substrate and action).

Front 346

α-ketoglutarate dehydrogenase complex is similar to

Back 346

Pyruvate dehydrogenase complex (same cofactors, similar substrate and action).

Front 347

Arsenic mech and clinical findings

Back 347

Arsenic inhibits lipoic acid (Pyruvate dehydrogenase complex cofactor): Vomiting, Rice water stools Garlic breath

Front 348

Vomiting, Rice water stools Garlic breath

Back 348

Arsenic

Front 349

Pyruvate dehydrogenase complex reaction

Back 349

Reaction: pyruvate + NAD+ + CoA → acetyl-CoA + CO2 + NADH.

Front 350

Pyruvate dehydrogenase complex activated by

Back 350

Activated by exercise: ↑ NAD+/NADH ratio ↑ ADP ↑ Ca2+

Front 351

the only purely ketogenic amino acids.

Back 351

Lysine and Leucine––

Front 352

Pyruvate dehydrogenase deficiency mech

Back 352

Causes backup of substrate (pyruvate and alanine), resulting in lactic acidosis. Can be congenital or acquired (as in alcoholics due to B1 deficiency).

Front 353

Pyruvate dehydrogenase deficiency findings

Back 353

neurologic defects.

Front 354

Pyruvate dehydrogenase deficiency Tx

Back 354

↑ intake of ketogenic nutrients (e.g., high fat content or ↑ lysine and leucine).

Front 355

# are needed to generate glucose from pyruvate.

Back 355

6 ATP equivalents

Front 356

Pyruvate metabolism Alanine

Back 356

carries amino groups to the liver from muscle.

Front 357

Pyruvate metabolism Oxaloacetate

Back 357

can replenish TCA cycle or be used in gluconeogenesis.

Front 358

Cori cycle mech and why

Back 358

Transfers excess reducing equivalents from RBCs and muscle to liver, allowing muscle to function anaerobically (net 2 ATP). Shifts metabolic burden to the liver.

Front 359

Transfers excess reducing equivalents from RBCs and muscle to liver, allowing muscle to function anaerobically (net 2 ATP). Shifts metabolic burden to the liver.

Back 359

Cori cycle

Front 360

TCA cycle what is produced/per what

Back 360

Produces 3 NADH, 1 FADH2, 2 CO2, 1 GTP per acetyl- CoA = 12 ATP/acetyl-CoA (2× everything per glucose)

Front 361

TCA cycle complex and features

Back 361

α-ketoglutarate dehydrogenase complex requires same cofactors as the pyruvate dehydrogenase complex (B1, B2, B3, B5, lipoic acid).

Front 362

TCA cycle order of things from Acetyl-CoA

Back 362

Can IKeep Selling Sex For Money, Officer? Citrate Isocitrate α-ketoglutarate Succinyl-CoA Succinate Fumarate Malate Oxalo-acetate

Front 363

Electron transport chain yields from input's

Back 363

1 NADH → 3 ATP; 1 FADH2 → 2 ATP.

Front 364

Oxidative phosphorylation poisons ↑ permeability of membrane, causing a ↓ proton gradient and ↑ O2 consumption. ATP synthesis stops, but electron transport continues.

Back 364

Uncoupling agents (UCP, 2,4-DNP, aspirin)

Front 365

Oxidative phosphorylation poisons UCP, 2,4-DNP, aspirin

Back 365

Uncoupling agents ↑ permeability of membrane, causing a ↓ proton gradient and ↑ O2 consumption. ATP synthesis stops, but electron transport continues.

Front 366

Oxidative phosphorylation poisons Rotenone, CN–, antimycin A, CO

Back 366

Electron transport inhibitors

Front 367

Oxidative phosphorylation poisons Directly inhibit electron transport, causing a ↓ proton gradient and block of ATP synthesis.

Back 367

Electron transport inhibitors -Rotenone, -cyanide, -antimycin A, -CO

Front 368

Oxidative phosphorylation poisons Directly inhibit mitochondrial ATPase, causing an ↑ proton gradient, but no ATP is produced because electron transport stops.

Back 368

ATPase inhibitors Oligomycin

Front 369

Oxidative phosphorylation poisons Oligomycin

Back 369

ATPase inhibitors Directly inhibit mitochondrial ATPase, causing an ↑ proton gradient, but no ATP is produced because electron transport stops.

Front 370

Gluconeogenesis, irreversible enzymes (where, what, regulation/requirements) Pyruvate carboxylase

Back 370

In mitochondria. Pyruvate → oxaloacetate. Requires biotin, ATP. Activated by acetyl-CoA.

Front 371

Gluconeogenesis, irreversible enzymes In mitochondria. Pyruvate → oxaloacetate. Requires biotin, ATP. Activated by acetyl-CoA.

Back 371

Pyruvate carboxylase

Front 372

Gluconeogenesis, irreversible enzymes (where, what, requirements) PEP carboxykinase

Back 372

In cytosol. Oxaloacetate → phosphoenolpyruvate. Requires GTP.

Front 373

Gluconeogenesis, irreversible enzymes In cytosol. Oxaloacetate → phosphoenolpyruvate. Requires GTP.

Back 373

PEP carboxykinase

Front 374

Gluconeogenesis, irreversible enzymes (where, what, regulation/requirements) Fructose-1,6- bisphosphatase

Back 374

In cytosol. Fructose-1,6-bisphosphate → fructose-6-P.

Front 375

Gluconeogenesis, irreversible enzymes In cytosol. Fructose-1,6-bisphosphate → fructose-6-P.

Back 375

Fructose-1,6- bisphosphatase

Front 376

Gluconeogenesis, irreversible enzymes (where, what, regulation/requirements) Glucose-6- phosphatase

Back 376

In ER. Glucose-6-P → glucose.

Front 377

Gluconeogenesis, irreversible enzymes name them

Back 377

Pathway Produces Fresh Glucose. -Pyruvate carboxylase -PEP carboxykinase -Fructose-1,6-bisphosphatase -Glucose-6- phosphatase

Front 378

Gluconeogenesis, irreversible enzymes In ER. Glucose-6-P → glucose.

Back 378

Glucose-6- phosphatase

Front 379

Gluconeogenesis, irreversible enzymes locations in body

Back 379

Above enzymes found only in liver, kidney, intestinal epithelium. Muscle cannot participate in gluconeogenesis.

Front 380

Deficiency of the key gluconeogenic enzymes causes

Back 380

hypoglycemia.

Front 381

Pentose phosphate pathway (HMP shunt) why

Back 381

Produces NADPH, which is required for fatty acid and steroid biosynthesis and for glutathione reduction inside RBCs. and nucleotide synthesis

Front 382

Pentose phosphate pathway (HMP shunt) where (in the the cell and body

Back 382

All reactions of this pathway occur in the cytoplasm. Sites: lactating mammary glands, liver, adrenal cortex––all sites of fatty acid or steroid synthesis.

Front 383

Pentose phosphate pathway (HMP shunt) wrt ATP

Back 383

No ATP is used or produced.

Front 384

Pentose phosphate pathway aka

Back 384

HMP shunt

Front 385

HMP shunt aka

Back 385

Pentose phosphate pathway

Front 386

Pentose phosphate pathway (HMP shunt) Oxidative reaction features, key enzymes, and products (with reasons)

Back 386

(irreversible) Glucose-6-phosphate dehydrogenase NADPH

Front 387

Pentose phosphate pathway (HMP shunt) Nonoxidative reaction features, key enzymes, and products (with reasons)

Back 387

(reversible) Transketolases (require thiamine) Ribose-5-phosphate (Ribose-5-phosphate (for nucleotide synthesis), G3P, F6P (glycolytic intermediates)

Front 388

Glucose-6-phosphate dehydrogenase deficiency who

Back 388

G6PD deficiency is more prevalent among blacks.

Front 389

Glucose-6-phosphate dehydrogenase deficiency histo

Back 389

Heinz bodies––altered Hemoglobin precipitates within RBCs.

Front 390

Glucose-6-phosphate dehydrogenase deficiency clinical findings

Back 390

hemolytic anemia due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine) and antituberculosis drugs.

Front 391

hemolytic anemia due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine) and antituberculosis drugs.

Back 391

Glucose-6-phosphate dehydrogenase deficiency

Front 392

Fructose intolerance mech

Back 392

deficiency of aldolase B (recessive). fructose-1-phosphate accumulates, causing a ↓ in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis.

Front 393

Fructose intolerance findings

Back 393

hypoglycemia, jaundice, cirrhosis, vomiting.

Front 394

Fructose intolerance Tx

Back 394

must ↓ intake of both fructose and sucrose (glucose + fructose).

Front 395

Essential fructosuria

Back 395

Involves a defect in fructokinase and is a benign, asymptomatic condition. Symptoms: fructose appears in blood and urine.

Front 396

Involves a defect in fructokinase and is a benign, asymptomatic condition. fructose appears in blood and urine.

Back 396

Essential fructosuria

Front 397

Galactosemia mech

Back 397

Absence of galactose-1-phosphate uridyltransferase. Autosomal recessive. Damage is caused by accumulation of toxic substances (including galactitol) rather than absence of an essential compound.

Front 398

Galactosemia clinical findings

Back 398

cataracts, hepatosplenomegaly, mental retardation.

Front 399

Galactosemia Tx

Back 399

exclude galactose and lactose (galactose + glucose) from diet.

Front 400

Amino acids Ketogenic:

Back 400

Leu, Lys

Front 401

Amino acids Glucogenic/ketogenic

Back 401

Ile, Phe, Trp

Front 402

Amino acids Glucogenic

Back 402

Met, Thr, Val, Arg, His

Front 403

Amino acids Essential

Back 403

PVT. TIM HALL always argues, never tires": Phe- Val- Thr- Trp- Ile- Met- His- Arg- Lue- Lys

Front 404

Amino acids Acidic

Back 404

Asp and Glu

Front 405

Amino acids Basic (and relative strengths)

Back 405

Arg, Lys, and His. Arg is most basic. His has no charge at body pH.

Front 406

Hyperammonemia who

Back 406

Can be acquired (e.g., liver disease) or hereditary (e.g., ornithine transcarbamoylase deficiency).

Front 407

Hyperammonemia mech

Back 407

Excess NH4 depletes α-ketoglutarate, leading to inhibition of TCA cycle.

Front 408

Hyperammonemia Tx

Back 408

arginine.

Front 409

Hyperammonemia clinical findings

Back 409

Ammonia intoxication: tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision.

Front 410

Urea cycle what and why

Back 410

Degrades amino acids into amino groups. Accounts for 90% of nitrogen in urine.

Front 411

Urea cycle order

Back 411

Ordinarily, Careless Crappers Are Also Frivolous About Urination. Ornithine + Carbamoyl phosphate go to Citruline which combines with Aspartate going to Argininosuccinate releasing fumarate and arginine (which combines with water to release Urea and ornithine) back to top

Front 412

Amino acid derivatives Phenylalanine

Back 412

from first to last Tyrosine ^(Thyroxine) to Dopamine to Dopa ^(Melanin) to NE to Epi

Front 413

Amino acid derivatives Tryptophan

Back 413

-Niacin ^ (NAD+/NADP+) or -Melatonin or -Serotonin

Front 414

Amino acid derivatives Histidine

Back 414

Histamine

Front 415

Amino acid derivatives Glycine

Back 415

to Porphyrin to Heme

Front 416

Amino acid derivatives Arginine

Back 416

Urea or Nitric oxide or Creatine

Front 417

Amino acid derivatives Glutamate

Back 417

GABA (glutamate decarboxylase—requires B6)

Front 418

What is the original amino acid for NE Thyroxine Tyrosine Dopamine Dopa Epi Melanin

Back 418

Phenylalanine

Front 419

What is the original amino acid for Niacin NAD+/NADP+ Melatonin Serotonin

Back 419

Tryptophan

Front 420

What is the original amino acid for Histamine

Back 420

Histidine

Front 421

What is the original amino acid for Porphyrin Heme

Back 421

Glycine

Front 422

What is the original amino acid for Urea Nitric oxide Creatine

Back 422

Arginine

Front 423

What is the original amino acid for GABA (glutamate decarboxylase—requires B6)

Back 423

Glutamate

Front 424

Normally, phenylalanine is converted into

Back 424

tyrosine

Front 425

Phenylketones name the three

Back 425

––phenylacetate, phenyllactate, and phenylpyruvate.

Front 426

Phenylketonuria mech

Back 426

there is ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor. Tyrosine becomes essential and phenylalanine builds up, leading to excess phenylketones in urine.

Front 427

Phenylketonuria clinical findings

Back 427

mental retardation, growth retardation, fair skin, eczema, musty body odor.

Front 428

Phenylketonuria Tx

Back 428

Treatment: ↓ ↓ phenylalanine (contained in aspartame, e.g., NutraSweet) and ↑ ↑ tyrosine in diet.

Front 429

Alkaptonuria aka

Back 429

ochronosis

Front 430

ochronosis aka

Back 430

Alkaptonuria

Front 431

Alkaptonuria (ochronosis) mech and findings

Back 431

Congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine. Resulting alkapton bodies cause urine to turn black on standing. Also, the connective tissue is dark. Benign disease. May have debilitating arthralgias.

Front 432

Albinism causes

Back 432

Congenital deficiency of either of the following: 1. Tyrosinase (inability to synthesize melanin from tyrosine) 2. Defective tyrosine transporters (↓ amounts of tyrosine and thus melanin) -Can result from a lack of migration of neural crest cells.

Front 433

Albinism wrt inheritance

Back 433

AR - Variable inheritance due to locus heterogeneity.

Front 434

Albinism wrt risk

Back 434

Lack of melanin results in an ↑ risk of skin cancer.

Front 435

Homocystinuria 3 forms mech and Tx

Back 435

1. Cystathionine synthase deficiency (treatment: ↓ Met and ↑ Cys in diet) 2. ↓ affinity of cystathionine synthase for pyridoxal phosphate (treatment: ↑↑ vitamin B6 in diet) 3. Methionine synthase deficiency

Front 436

Homocystinuria general mech

Back 436

Results in excess homocysteine in the urine. Cysteine becomes essential.

Front 437

Homocystinuria findings

Back 437

Can cause mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), and atherosclerosis (stroke and MI).

Front 438

Cystinuria mech

Back 438

Common (1:7000) inherited defect of renal tubular amino acid transporter for Cystine, Ornithine, Lysine, and Arginine in kidneys. COLA

Front 439

Cystinuria clinical findings and Tx

Back 439

Excess cystine in urine can lead to the precipitation of cystine kidney stones. Treat with acetazolamide to alkalinize the urine.

Front 440

Maple syrup urine disease mech

Back 440

Blocked degradation of branched amino acids (Ile, Val, Leu) "I Love Vermont maple syrup" due to ↓α-ketoacid dehydrogenase. Causes ↑α-ketoacids in the blood, especially Leu.

Front 441

Maple syrup urine disease clinical findings

Back 441

Urine smells like maple syrup. Causes severe CNS defects, mental retardation, and death.

Front 442

Lesch-Nyhan syndrome mech

Back 442

Purine salvage problem owing to absence of HGPRTase. Results in excess uric acid production.

Front 443

Lesch-Nyhan syndrome findings

Back 443

Findings: retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis.

Front 444

retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis.

Back 444

Lesch-Nyhan syndrome

Front 445

Adenosine deaminase deficiency mech

Back 445

Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase. This prevents DNA synthesis and thus ↓ lymphocyte count.

Front 446

1st disease to be treated by experimental human gene therapy.

Back 446

Adenosine deaminase deficiency

Front 447

Adenosine deaminase deficiency complications

Back 447

SCID––severe combined (T and B) immunodeficiency

Front 448

Liver: fed state vs. fasting state what is released in fed state

Back 448

just VLDL

Front 449

Liver: fed state vs. fasting state what is released in fasting state

Back 449

Glucose and Ketone bodies

Front 450

Liver: fed state vs. fasting state mnemonic

Back 450

In the PHasting state, PHosphorylate.

Front 451

what cells don't need insulin to uptake glucose

Back 451

BRICK L: Brain RBCs Intestine Cornea Kidney Liver

Front 452

Where are different GLUT's and different activities

Back 452

-GLUT1: RBCs, brain -GLUT2 (bidirectional): β islet cells, liver, kidney -GLUT4 (insulin responsive): adipose tissue, skeletal muscle

Front 453

5 Anabolic effects of insulin:

Back 453

1. ↑ glucose transport 2. ↑ glycogen synthesis and storage 3. ↑ triglyceride synthesis and storage 4. ↑ Na retention (kidneys) 5. ↑ protein synthesis (muscles)

Front 454

Serum C-peptide is not present with

Back 454

exogenous insulin intake.

Front 455

???? inhibits glucagon release by α cells of pancreas.

Back 455

insulin

Front 456

Glycogen synthase regulation in liver and muscle

Back 456

Liver: ⊕Insulin and/or Glucose -Glucagon and or Epinephrine Muscle: ⊕Insulin -Epinephrine

Front 457

Glycogen phosphorylase regulation in liver and muscle

Back 457

Liver ⊕Epinephrine and or Glucagon -Insulin Muscle: ⊕AMP and/or epinephrine -ATP and/or Insulin

Front 458

Required for adipose and skeletal muscle uptake of glucose.

Back 458

Insulin

Front 459

Glycogen storage diseases names of the main ones

Back 459

"Very Poor Carbohydrate Metabolism" Von Gierke’s disease (Type I) Pompe’s disease(Type II) Cori’s disease(Type III) McArdle’s disease (Type V)

Front 460

Glycogen storage diseases #'s and features

Back 460

12 types, all resulting in abnormal glycogen metabolism and an accumulation of glycogen within cells.

Front 461

Von Gierke’s disease Findings, Deficient enzyme and comments

Back 461

Severe fasting hypoglycemia, ↑↑ glycogen in liver, ↑ blood lactate, hepatomegaly. Glucose-6-phosphate. -The liver becomes a muscle. (Think about it.)

Front 462

Pompe’s disease Findings, Deficient enzyme and comments

Back 462

Cardiomegaly and systemic findings leading to early death. Lysosomal α-1,4- glucosidase (acid maltase). Pompe’s trashes the Pump (heart, liver, and muscle).

Front 463

Cori’s disease Findings, Deficient enzyme and comments

Back 463

Milder form of Type I with normal blood lactate levels. Debranching enzyme α-1,6-glucosidase.

Front 464

McArdle’s disease Findings, Deficient enzyme and comments

Back 464

↑glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise. Skeletal muscle glycogen phosphorylase.

Front 465

↑glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise.

Back 465

McArdle’s disease

Front 466

Severe fasting hypoglycemia, ↑↑ glycogen in liver, ↑ blood lactate, hepatomegaly.

Back 466

Von Gierke’s disease

Front 467

Cardiomegaly and systemic findings leading to early death.

Back 467

Pompe’s disease

Front 468

Inheritance of Lysosomal storage diseases

Back 468

Fabry’s disease and Hunter’s syndrome are XR the rest are AR

Front 469

Fabry’s disease Findings /Deficient enzyme /Accumulated substrate

Back 469

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease α-galactosidase A Ceramide trihexoside

Front 470

Gaucher’s disease Findings /Deficient enzyme /Accumulated substrate

Back 470

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages) β-glucocerebrosidase Glucocerebroside

Front 471

Niemann-Pick disease Findings /Deficient enzyme /Accumulated substrate

Back 471

"No man picks (Niemann-Pick) his nose with his sphinger (sphingomyelinase)." Progressive neurodegeneration, hepatosplenomegaly, cherry- red spot (on macula) Sphingomyelinase Sphingomyelin

Front 472

Tay-Sachs disease Findings /Deficient enzyme /Accumulated substrate

Back 472

Progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin ' Tay-SaX (Tay-Sachs) lacks heXosaminidase." Hexosaminidase A GM2 ganglioside

Front 473

Krabbe’s disease Findings /Deficient enzyme /Accumulated substrate

Back 473

Peripheral neuropathy, developmental delay, optic atrophy β-galactosidase Galactocerebroside

Front 474

Metachromatic leukodystrophy Findings /Deficient enzyme /Accumulated substrate

Back 474

Central and peripheral demyelination with ataxia, dementia Arylsulfatase A Cerebroside sulfate

Front 475

Hurler’s syndrome Findings /Deficient enzyme /Accumulated substrate

Back 475

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly α-L-iduronidase Heparan sulfate, dermatan sulfate

Front 476

Hunter’s syndrome Findings /Deficient enzyme /Accumulated substrate

Back 476

Mild Hurler’s + aggressive behavior, no corneal clouding Iduronate sulfatase Heparan sulfate, dermatan sulfate

Front 477

Lysosomal storage diseases names and general classes

Back 477

Sphingoliposes: Fabry’s disease - Gaucher’s disease - Niemann-Pick - Tay-Sachs disease - Krabbe’s disease - Metachromatic leukodystrophy Mucopolysaccharidoses: Hurler’s syndrome -Hunter’s syndrome

Front 478

Lysosomal storage diseases most common

Back 478

Gaucher’s disease

Front 479

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages)

Back 479

Gaucher’s disease

Front 480

Progressive neurodegeneration, hepatosplenomegaly, cherry- red spot (on macula)

Back 480

Niemann-Pick disease Tay-Sachs disease

Front 481

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

Back 481

Fabry’s disease

Front 482

inability to utilize LCFAs and toxic accumulation.

Back 482

Carnitine deficiency:

Front 483

Ketone bodies where/how/why produced

Back 483

In liver: fatty acid and amino acids → HMG-CoA → acetoacetate + β-hydroxybutyrate (to be used in muscle and brain Ketone bodies are metabolized by the brain to 2 molecules of acetyl-CoA.)

Front 484

Ketone bodies when

Back 484

prolonged starvation and diabetic ketoacidosis

Front 485

Cholesterol synthesis rate limiting step and mech and wrt esterificatoin

Back 485

Rate-limiting step is catalyzed by HMG-CoA reductase, which converts HMG-CoA to mevalonate. 2⁄3 of plasma cholesterol is esterified by lecithin-cholesterol acyltransferase (LCAT).

Front 486

Lovastatin inhibits

Back 486

HMG- CoA reductase.

Front 487

what inhibits HMG- CoA reductase.

Back 487

statins

Front 488

Essential fatty acids and why

Back 488

Linoeic and linolenic acids. Arachidonic acid, if linoleic acid is absent. Eicosanoids are dependent on essential fatty acids.

Front 489

Lipases (function/which one) degradation of dietary TG in small intestine.

Back 489

Pancreatic lipase

Front 490

Lipases (function/which one) Pancreatic lipase

Back 490

degradation of dietary TG in small intestine.

Front 491

Lipases (function/which one) Lipoprotein lipase

Back 491

degradation of TG circulating in chylomicrons and VLDLs.

Front 492

Lipases (function/which one) degradation of TG circulating in chylomicrons and VLDLs.

Back 492

Lipoprotein lipase

Front 493

Lipases (function/which one) Hepatic TG lipase

Back 493

degradation of TG remaining in IDL.

Front 494

Lipases (function/which one) degradation of TG remaining in IDL.

Back 494

Hepatic TG lipase

Front 495

Lipases (function/which one) Hormone-sensitive lipase

Back 495

degradation of TG stored in adipocytes.

Front 496

Lipases (function/which one) degradation of TG stored in adipocytes.

Back 496

Hormone-sensitive lipase

Front 497

fat enzymes (function/which one) Lecithin-cholesterol acyltransferase (LCAT)

Back 497

catalyzes esterification of cholesterol.

Front 498

fat enzymes (function/which one) catalyzes esterification of cholesterol.

Back 498

Lecithin-cholesterol acyltransferase (LCAT)

Front 499

fat enzymes (function/which one) Cholesterol ester transfer protein (CETP)

Back 499

mediates transfer of cholesterol esters to other lipoprotein particles.

Front 500

fat enzymes (function/which one) mediates transfer of cholesterol esters to other lipoprotein particles.

Back 500

Cholesterol ester transfer protein (CETP)

Front 501

Major apolipoproteins function of A-I

Back 501

Activates LCAT.

Front 502

Major apolipoproteins Activates LCAT.

Back 502

A-I

Front 503

Major apolipoproteins function of B-100

Back 503

Binds to LDL receptor, mediates VLDL secretion.

Front 504

Major apolipoproteins Binds to LDL receptor, mediates VLDL secretion.

Back 504

B-100

Front 505

Major apolipoproteins function of C-II

Back 505

Cofactor for lipoprotein lipase.

Front 506

Major apolipoproteins Cofactor for lipoprotein lipase.

Back 506

C-II

Front 507

Major apolipoproteins function of B-48

Back 507

Mediates chylomicron secretion.

Front 508

Major apolipoproteins Mediates chylomicron secretion.

Back 508

B-48

Front 509

Major apolipoproteins Mediates Extra (remnant) uptake.

Back 509

E

Front 510

Major apolipoproteins function of E

Back 510

Mediates Extra (remnant) uptake.

Front 511

Which lipoproteins are on IDL

Back 511

B-100 E

Front 512

Which lipoproteins are on LDL

Back 512

B-100

Front 513

Which lipoproteins are on VLDL

Back 513

C-II B-100 E

Front 514

Which lipoproteins are on Chylomicron remnant

Back 514

B-48 E

Front 515

Which lipoproteins are on Chylomicron

Back 515

A B-48 C-II E

Front 516

Lipoprotein compositions

Back 516

Lipoproteins are composed of varying proportions of cholesterol, triglycerides, and phospholipids.

Front 517

carry most cholestero

Back 517

LDL and HDL

Front 518

Function and route Chylomicron

Back 518

Delivers dietary triglycerides to peripheral tissues and dietary cholesterol to liver. Secreted by intestinal epithelial cells.

Front 519

Function and route VLDL

Back 519

Delivers hepatic triglycerides to peripheral tissues Secreted by liver.

Front 520

Function and route IDL

Back 520

Formed in the degradation of VLDL. Delivers triglycerides and cholesterol to liver, where they are degraded to LDL.

Front 521

Function and route LDL

Back 521

Delivers hepatic cholesterol to peripheral tissues. Formed by lipoprotein lipase modification of VLDL in the peripheral tissue. Taken up by targe cells via receptor-mediated endocytosis.

Front 522

Function and route HDL

Back 522

Mediates centripetal transport of cholesterol (reverse cholesterol transport, from periphery to liver). Acts as a repository for apoC and apoE (which are needed for chylomicron and VLDL metabolism). Secreted from both liver and intestine.

Front 523

Familial dyslipidemias Type I -aka -What is increased -elevated blood levels -pathophys

Back 523

I––hyperchylomicronemia Chylomicrons TG, cholesterol Lipoprotein lipase deficiency or altered apolipoprotein C-II

Front 524

Familial dyslipidemias Type IIa -aka -What is increased -elevated blood levels -pathophys

Back 524

IIa––hypercholesterolemia LDL Cholesterol ↓ LDL receptors

Front 525

Familial dyslipidemias Type IV -aka -What is increased -elevated blood levels -pathophys

Back 525

IV––hypertriglyceridemia VLDL TG Hepatic overproduction of VLDL

Front 526

Underproduction of heme causes ? Accumulation of intermediates causes ?

Back 526

microcytic hypochromic anemia. porphyrias.

Front 527

Porphyrias name them

Back 527

Lead poisoning Acute intermittent porphyria Porphyria cutanea tarda

Front 528

Porphyrias symptyoms

Back 528

Symptoms = 5 P’s: Painful abdomen, Pink urine, Polyneuropathy, Psychological disturbances, Precipitated by drugs

Front 529

Affected enzyme and Accumulated substrate in urine Lead poisoning

Back 529

Ferrochelatase and ALA dehydrase Coproporhyrin and ALA

Front 530

Affected enzyme and Accumulated substrate in urine Acute intermittent porphyria

Back 530

porphobilinogen deaminase Porphobilinogen and δ-ALA

Front 531

Affected enzyme and Accumulated substrate in urine Porphyria cutanea tarda

Back 531

Uroporphyrinogen decarboxylase Uroporphyrin (tea-colored)

Front 532

Heme catabolism scavanve mech

Back 532

Heme is scavenged from RBCs and Fe2+ is reused. Heme →biliverdin →bilirubin

Front 533

what makes bruises blue/green

Back 533

biliverdin

Front 534

Heme catabolism wrt newborns

Back 534

jaundiced newborns are put under UV light which converts bilirubin into urine- solubile products

Front 535

Hemoglobin formations and implications

Back 535

1. T (taut) form has low affinity for O2. 2. R (relaxed) form has high affinity for O2 (300×).

Front 536

Hemoglobin wrt allosteric

Back 536

Hemoglobin exhibits positive cooperativity and negative allostery (accounts for the sigmoid-shaped O2 dissociation curve for hemoglobin), unlike myoglobin.

Front 537

how can fetal Hb take O2 from Hb

Back 537

Fetal hemoglobin (2α and 2γ subunits) has lower affinity for 2,3-BPG than adult hemoglobin (HbA) and thus has higher affinity for O2.

Front 538

↑ Cl−, H+, CO2, 2,3-BPG, and temperature shifts dissociation curve to right, leading to ↑ O2 unloading) HOW?

Back 538

favor T form over R form promoting O2 unloading (negative allosteric regulation).

Front 539

CO2 transport in blood by Hb (where)

Back 539

CO2 (primarily as bicarbonate) binds to amino acids in globin chain at N terminus, but not to heme.

Front 540

cyanide poisoning Tx and mech

Back 540

Administer nitrites in cyanide poisoning to oxidize hemoglobin to methemoglobin.

Front 541

Methemoglobin

Back 541

Oxidized form of hemoglobin (ferric, Fe3+) that does not bind O2 as readily, but has ↑ affinity for CN–.

Front 542

Iron in hemoglobin is normally

Back 542

in a reduced state (ferrous, Fe2+).

Front 543

Carboxyhemoglobin

Back 543

Form of hemoglobin bound to CO in place of O2.

Front 544

Form of hemoglobin bound to CO in place of O2.

Back 544

Carboxyhemoglobin

Front 545

Oxidized form of hemoglobin (ferric, Fe3+) that does not bind O2 as readily, but has ↑ affinity for CN–.

Back 545

Methemoglobin

Front 546

Methemoglobin Tx

Back 546

Treat toxic levels of METHemoglobin with METHylene blue.

Front 547

CO has a ?????? affinity than O2 for hemoglobin.

Back 547

200× greater

Front 548

Polymerase chain reaction (PCR) steps

Back 548

1. DNA is denatured by heating to generate 2 separate strands 2. During cooling, excess premade DNA primers anneal to a specific sequence on eac strand to be amplified 3. Heat-stable DNA polymerase replicates the DNA sequence following each primer

Front 549

different direction blots

Back 549

SNoW DRoP: Southern = DNA Northern = RNA Western = Protein

Front 550

A rapid immunologic technique testing for antigen-antibody reactivity.

Back 550

Enzyme-linked immunosorbent assay (ELISA)

Front 551

Enzyme-linked immunosorbentassay (ELISA) why

Back 551

to determinewhether a particular antibody (e.g., anti-HIV) is present in a patient’s blood ample. Both the sensitivity

Front 552

Fluorescence in situ hybridization (FISH)

Back 552

Fluorescent probe binds to specific gene site of interest. Specific localization of genes and direct visualization of anomalies at molecular level.

Front 553

Genetic terms Variable expression

Back 553

Nature and severity of the phenotype varies from 1 individual to another.

Front 554

Genetic terms Nature and severity of the phenotype varies from 1 individual to another.

Back 554

Variable expression

Front 555

Genetic terms Incomplete penetrance

Back 555

Not all individuals with a mutant genotype show the mutant phenotype.

Front 556

Genetic terms Not all individuals with a mutant genotype show the mutant phenotype.

Back 556

Incomplete penetrance

Front 557

Genetic terms Pleiotropy

Back 557

1 gene has > 1 effect on an individual’s phenotype.

Front 558

Genetic terms 1 gene has > 1 effect on an individual’s phenotype.

Back 558

Pleiotropy

Front 559

Genetic terms Imprinting

Back 559

Differences in phenotype depend on whether the mutation is of maternal or paternal origin (e.g., AngelMan’s syndrome [Maternal], Prader-Willi syndrome [Paternal]).

Front 560

Genetic terms Differences in phenotype depend on whether the mutation is of maternal or paternal origin

Back 560

Imprinting

Front 561

Genetic terms Anticipation

Back 561

Severity of disease worsens or age of onset of disease is earlier in succeeding generations (e.g., Huntington’s disease).

Front 562

Genetic terms Severity of disease worsens or age of onset of disease is earlier in succeeding generations

Back 562

Anticipation

Front 563

Genetic terms Loss of heterozygosity

Back 563

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true of oncogenes.

Front 564

Genetic terms If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true of oncogenes.

Back 564

Loss of heterozygosity

Front 565

Genetic terms Dominant negative mutation

Back 565

Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.

Front 566

Genetic terms Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.

Back 566

Dominant negative mutation

Front 567

Genetic terms Linkage disequilibrium

Back 567

Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations.

Front 568

Genetic terms Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations.

Back 568

Linkage disequilibrium

Front 569

Genetic terms Mosaicism

Back 569

Occurs when cells in the body have different genetic makeup (e.g., lyonization–– random X inactivation in females).

Front 570

Genetic terms Occurs when cells in the body have different genetic makeup

Back 570

Mosaicism

Front 571

Genetic terms Locus heterogeneity

Back 571

Mutations at different loci can produce the same phenotype (e.g., albinism).

Front 572

Genetic terms Mutations at different loci can produce the same phenotype

Back 572

Locus heterogeneity

Front 573

Hardy-Weinberg law assumes:

Back 573

1. no mutation occurring at the locus 2. There is no selection for any of the genotypes at the locus 3. random mating 4. no migration being considered

Front 574

Imprinting describe the main example

Back 574

Prader-Willi ( Deletion of normally active paternal allele) Angelman’s syndrome (Deletion of normally active maternal allele)

Front 575

Prader-Willi findings

Back 575

Mental retardation, obesity, hypogonadism, hypotonia.

Front 576

Angelman’s syndrome findings

Back 576

Mental retardation, seizures, ataxia, inappropriate laughter (happy puppet).

Front 577

Mental retardation, seizures, ataxia, inappropriate laughter (happy puppet).

Back 577

Angelman’s syndrome

Front 578

Mental retardation, obesity, hypogonadism, hypotonia.

Back 578

Prader-Willi

Front 579

Mitochondrial inheritance diseases

Back 579

Leber’s hereditary optic neuropathy; mitochondrial myopathies.

Front 580

Mitochondrial inheritance mech

Back 580

Transmitted only through mother. All offspring of affected females may show signs of disease.

Front 581

AR/AD/XR/XD Adult polycystic kidney disease

Back 581

AD

Front 582

AR/AD/XR/XD Familial hypercholesterolemia

Back 582

AD

Front 583

AR/AD/XR/XD Marfan’s syndrome

Back 583

AD

Front 584

AR/AD/XR/XD von Recklinghausen’s disease

Back 584

AD

Front 585

AR/AD/XR/XD Neurofibromatosis type 1

Back 585

AD

Front 586

AR/AD/XR/XD Neurofibromatosis type 2

Back 586

AD

Front 587

AR/AD/XR/XD Tuberous sclerosis

Back 587

AD

Front 588

AR/AD/XR/XD Von Hippel–Lindau disease

Back 588

AD

Front 589

AR/AD/XR/XD Huntington’s disease

Back 589

AD

Front 590

AR/AD/XR/XD Familial adenomatous polyposis

Back 590

AD

Front 591

AR/AD/XR/XD Hereditary spherocytosis

Back 591

AD

Front 592

AR/AD/XR/XD Achondroplasia

Back 592

AD

Front 593

AR/AD/XR/XD Cystic fibrosis

Back 593

AR

Front 594

AR/AD/XR/XD albinism

Back 594

AR

Front 595

AR/AD/XR/XD α1-antitrypsin deficiency

Back 595

AR

Front 596

AR/AD/XR/XD phenylketonuria

Back 596

AR

Front 597

AR/AD/XR/XD thalassemias

Back 597

AR

Front 598

AR/AD/XR/XD sickle cell anemias

Back 598

AR

Front 599

AR/AD/XR/XD glycogen storage diseases

Back 599

AR

Front 600

AR/AD/XR/XD mucopolysaccharidoses

Back 600

AR (except Hunter’s),

Front 601

AR/AD/XR/XD sphingolipidoses

Back 601

AR (except Fabry’s)

Front 602

AR/AD/XR/XD infant polycystic kidney disease

Back 602

AR

Front 603

AR/AD/XR/XD hemochromatosis

Back 603

AR

Front 604

AR/AD/XR/XD Bruton's agammaglobulinemia

Back 604

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 605

AR/AD/XR/XD Wiskott-Aldrich syndrome

Back 605

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 606

AR/AD/XR/XD Fragile X

Back 606

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 607

AR/AD/XR/XD G6PD deficiency

Back 607

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 608

AR/AD/XR/XD Ocular albinism

Back 608

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 609

AR/AD/XR/XD Lesch-Nyhan syndrome

Back 609

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 610

AR/AD/XR/XD Duchenne's muscular dystrophy

Back 610

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 611

AR/AD/XR/XD Hemophilia A and B

Back 611

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 612

AR/AD/XR/XD Fabry's disease

Back 612

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 613

AR/AD/XR/XD Hunter's syndrome

Back 613

XR Be Wise, Fool's GOLD Heeds False Hope.

Front 614

name the XR disorders

Back 614

Be Wise, Fool's GOLD Heeds False Hope Bruton's agammaglobulinemia, Wiskott-Aldrich syndrome, Fragile X, G6PD deficiency, Ocular albinism, Lesch-Nyhan syndrome, Duchenne muscular dystrophy, Hemophilia A and B, Fabry's disease, Hunter's syndrome.

Front 615

Adult polycystic kidney disease presentation

Back 615

Always bilateral, massive enlargement of kidneys due to multiple large cysts. Patients present with pain, hematuria, hypertension, progressive renal failure.

Front 616

Adult polycystic kidney disease specific genetics

Back 616

are due to mutation in APKD1 (chromosome 16)

Front 617

Adult polycystic kidney disease associations

Back 617

Associated with polycystic liver disease, berry aneurysms, mitral valve prolapsediverticulosis

Front 618

Familial hypercholesterolemia (hyperlipidemia type IIA) clinical findings

Back 618

severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20.

Front 619

Familial hypercholesterolemia (hyperlipidemia type IIA) lab findings

Back 619

Elevated LDL owing to defective or absent LDL receptor. Heterozygotes (1:500) have cholesterol ≈ 300 mg/dL. Homozygotes (very rare) have cholesterol ≈ 700+ mg/dL,

Front 620

Marfan’s syndrome Skeletal abnormalities

Back 620

tall with long extremities (arachnodactyly), pectus excavatum, hyperextensive joints, and long, tapering fingers and toes (see Image 109).

Front 621

Marfan’s syndrome vascular findings

Back 621

Cardiovascular––cystic medial necrosis of aorta → aortic incompetence and dissecting aortic aneurysms. Floppy mitral valve.

Front 622

Marfan’s syndrome ocular findings

Back 622

Ocular––subluxation of lenses.

Front 623

Neurofibromatosis type 1 aka

Back 623

von Recklinghausen’s disease

Front 624

von Recklinghausen’s disease aka

Back 624

Neurofibromatosis type 1

Front 625

Neurofibromatosis type 1 (von Recklinghausen’s disease) findings

Back 625

café-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (e.g., scoliosis), optic pathway gliomas, pheochromocytoma, and ↑ tumor susceptibility.

Front 626

due to mutation in APKD1 (chromosome 16)

Back 626

Adult polycystic kidney disease

Front 627

café-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (e.g., scoliosis), optic pathway gliomas, pheochromocytoma, and ↑ tumor susceptibility.

Back 627

Neurofibromatosis type 1 (von Recklinghausen’s disease)

Front 628

what are Lisch nodules

Back 628

pigmented iris hamartomas seen in Neurofibromatosis type 1

Front 629

Neurofibromatosis type 1 (von Recklinghausen’s disease) specific genetics

Back 629

On long arm of chromosome17; 17 letters in von Recklinghausen or Neurofibromatosis

Front 630

On long arm of chromosome17

Back 630

Neurofibromatosis 17 letters in von Recklinghausen or Neurofibromatosis

Front 631

Neurofibromatosis type 2 clinical findings

Back 631

Bilateral acoustic neuroma, juvenile cataracts

Front 632

Neurofibromatosis type 2 specific genetics

Back 632

NF2 gene on chromosome 22; type 2 = 22.

Front 633

NF2 gene on chromosome 22;

Back 633

Neurofibromatosis type 2 type 2 = 22

Front 634

Tuberous sclerosis findings

Back 634

Findings: facial lesions (adenoma sebaceum), hypopigmented “ash leaf spots” on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentation.

Front 635

facial lesions (adenoma sebaceum), hypopigmented “ash leaf spots” on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas.

Back 635

Tuberous sclerosis

Front 636

Von Hippel–Lindau disease findings

Back 636

hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.

Front 637

hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.

Back 637

Von Hippel–Lindau disease

Front 638

Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p).

Back 638

Von Hippel–Lindau = 3 words for chromosome 3.

Front 639

Von Hippel–Lindau disease specific genetics

Back 639

Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p). Von Hippel–Lindau = 3 words for chromosome 3.

Front 640

Huntington’s disease clinical findings

Back 640

Findings: depression, progressive dementia, choreiform movements, Symptoms manifest in affected individuals between the ages of 20 and 50.

Front 641

Huntington’s disease lab/gross findings

Back 641

caudate atrophy and ↓ levels of GABA and ACh in the brain.

Front 642

Huntington’s disease specific genetics

Back 642

Gene located on chromosome 4; triplet repeat disorder. “Hunting 4 food.”

Front 643

Gene located on chromosome 4; triplet repeat disorder

Back 643

Huntington’s disease “Hunting 4 food.”

Front 644

Familial adenomatous polyposis specific genetics

Back 644

Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected.

Front 645

Familial adenomatous polyposis findings

Back 645

Deletion on chromosome 5; 5 letters in “polyp.”

Front 646

Deletion on chromosome 5

Back 646

Familial adenomatous polyposis 5 letters in “polyp.”

Front 647

Hereditary spherocytosis findings

Back 647

Spheroid erythrocytes; hemolytic anemia; increased MCHC.

Front 648

Hereditary spherocytosis Tx

Back 648

Splenectomy is curative.

Front 649

Achondroplasia gene/mech

Back 649

Autosomal-dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3.

Front 650

Achondroplasia findings

Back 650

Results in dwarfism; short limbs, but head and trunk are normal size

Front 651

Achondroplasia associations

Back 651

Associated with advanced paternal age.

Front 652

Cystic fibrosis specific genetics

Back 652

defect in CFTR gene on chromosome 7, commonly deletion of Phe 508.

Front 653

Cystic fibrosis specific complication in males

Back 653

Infertility in males due to absent vas deferens.

Front 654

Most common lethal genetic disease of Caucasians.

Back 654

Cystic fibrosis

Front 655

Treatment: N-acetylcysteine to loosen mucous plugs.

Back 655

Cystic fibrosis

Front 656

Cystic fibrosis Tx

Back 656

N-acetylcysteine to loosen mucous plugs.

Front 657

Cystic fibrosis mech

Back 657

Defective Cl− channel →secretion of abnormally thick mucus that plugs lungs, pancreas, and liver → recurrent pulmonary infections

Front 658

What does the normal CFTR channel do

Back 658

CFTR channel secretes Cl– in lungs and GI tract and reabsorbs Cl– from sweat.

Front 659

Cystic fibrosis Dx

Back 659

↑ concentration of Cl− ions in sweat test is diagnostic.

Front 660

Cystic fibrosis clinical findings

Back 660

liver → recurrent pulmonary infections (Pseudomonas species and S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption [Fat-soluble vitamin deficiencies (A, D, E, K] and steatorrhea), meconium ileus in newborns. Infertility in males due to absent vas deferens. Can present as failure to thrive in infancy.

Front 661

recurrent pulmonary infections (Pseudomonas species and S. aureus)

Back 661

Cystic fibrosis

Front 662

Duchenne’s Muscular dystrophy specific genetics

Back 662

Frame-shift mutation → deletion of dystrophin gene

Front 663

Duchenne’s Muscular dystrophy mech

Back 663

Frame-shift mutation → deletion of dystrophin gene → accelerated muscle breakdown.

Front 664

Duchenne’s Muscular dystrophy clinical findigns

Back 664

gene → accelerated muscle breakdown. Onset before 5 years of age. Weakness begins in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle; cardiac myopathy

Front 665

Mutated dystrophin gene is less severe than Duchenne’s.

Back 665

Becker’s

Front 666

Duchenne’s Muscular dystrophy Dx

Back 666

Diagnose muscular dystrophies by ↑ CPK and muscle biopsy.

Front 667

Fragile X syndrome specific genetics

Back 667

X-linked defect affecting the methylation and expression of the FMR1 gene. Triplet repeat disorder (CGG)n that may show genetic anticipation (germlike expansion in females).

Front 668

X-linked defect affecting the methylation and expression of the FMR1 gene.

Back 668

Fragile X syndrome

Front 669

The 2nd most common cause of genetic mental retardation

Back 669

Fragile X syndrome

Front 670

Fragile X syndrome findings

Back 670

-mental retardation -macro-orchidism (enlarged testes) -long face with a large jaw, -large everted ears, -autism.

Front 671

-mental retardation -macro-orchidism (enlarged testes) -long face with a large jaw, -large everted ears, -autism.

Back 671

Fragile X syndrome

Front 672

Trinucleotide repeat expansion diseases name them

Back 672

Huntington’s disease, myotonic dystrophy, Friedreich’s ataxia, fragile X syndrome. "Try (trinucleotide) hunting for my fried eggs (X)"

Front 673

Autosomal trisomies name them

Back 673

Down syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) Patau’s syndrome (trisomy 13)

Front 674

Most common chromosomal disorder

Back 674

Down syndrome

Front 675

Most common cause of congenital mental retardation.

Back 675

Down syndrome

Front 676

Down syndrome 8 findings

Back 676

1. mental retardation, 2. flat facial profile, 3. prominent epicanthal folds, 4. simian crease, 5. duodenal atresia, 6. congenital heart disease 7. Alzheimer’s disease in affected individuals > 35 years old, 8. ↑ risk of ALL.

Front 677

Down syndrome what kind of heart defect

Back 677

heart disease (most common malformation is septum primum–type ASD due to endocardial cushion defects),

Front 678

Down syndrome screening

Back 678

↓ levels of α-fetoprotein, ↑β-hCG, ↑ nuchal translucency.

Front 679

Down syndrome mech/and mom age

Back 679

95% of cases due to meiotic nondisjunction of homologous chromosomes; associated with advanced maternal age - 4% of cases due to robertsonian translocation, - 1% of cases due to Down mosaicism (no maternal association)

Front 680

Edwards’ syndrome findings

Back 680

severe mental retardation, rocker bottom feet, low-set ears, micrognathia (small jaw), congenital heart disease, clenched hands, prominent occiput. Death usually occurs within 1 year of birth.

Front 681

severe mental retardation, rocker bottom feet, low-set ears, micrognathia (small jaw), congenital heart disease, clenched hands, prominent occiput.

Back 681

Edwards’ syndrome

Front 682

Patau’s syndrome findings

Back 682

severe mental retardation, microphthalm microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease. Death usually occurs within 1 year of birth.

Front 683

severe mental retardation, microphthalm microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease. Death usually occurs within 1 year of birth.

Back 683

Patau’s syndrome

Front 684

Congenital deletion of short arm of chromosome 5 (46,XX or XY, 5p−).

Back 684

Cri-du-chat syndrome

Front 685

Cri-du-chat syndrome genetics

Back 685

Congenital deletion of short arm of chromosome 5 (46,XX or XY, 5p−).

Front 686

Cri-du-chat syndrome findings

Back 686

microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities.

Front 687

microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities.

Back 687

Cri-du-chat syndrome

Front 688

22q11 syndrome main

Back 688

CATCH-22. Cleft palate, Abnormal facies, Thymic aplasia → T-cell deficiency, C ardiac defects, Hypocalcemia 2° to parathyroid aplasia, microdeletion at chromosome 22q11. Variable presentation as

Front 689

22q11 syndromes Variable presentation as

Back 689

DiGeorge syndrome (thymic, parathyroid, and cardiac defects) or velocardiofacial syndrome (palate, facial, and cardiac defects).

Front 690

Fetal alcohol syndrome worst window

Back 690

3–8 weeks

Front 691

Fetal alcohol syndrome complications

Back 691

-pre- and postnatal developmental retardation, -microcephaly, -facial abnormalities, -limb dislocation, -heart and lung fistulas. Mechanism may include

Front 692

Fetal alcohol syndrome mech

Back 692

Mechanism may include inhibition of cell migration.

Front 693

The number one cause of congenital malformations in the United States.

Back 693

Fetal alcohol syndrome

Front 694

Fetal alcohol syndrome how common

Back 694

The number one cause of congenital malformations in the United States.

Front 695

Chromosomal inversion nomenclature

Back 695

PerIcentric: Involves the centromere, proceeds through meIosis Paracentric. does NOT Involves the centromere, does NOT proceed through meiosis