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365 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Glucose -> G6P, an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
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glucokinase/hexokinase
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Fructose 6-phosphate -> F1,6BP, an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
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Phosphofructokinase (PFK)
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Phosphoenolpyruvate (PEP)->pyruvate, an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
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pyruvate kinase
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Acetyl CoA --> Citrate, an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
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citrate synthase
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a-ketoglutarate -> succinate, an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
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a-ketoglutarate dehydrogenase
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How many ATP are produced from one glucose molecule in anaerobic glycolysis?
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2 ATP produced
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How many ATP are produced from one glucose molecule in aerobic metabolism?
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38ATP from malate shuttle
36 ATP from Glucose 3 phosphate shuttle |
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What is the product of the hexose monophospate shunt (HMP)?
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NADPH used in anabolic processes (steroid and fatty acid synthesis) and ribose 5-phosphate for nucleotide synthesis
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What molecules are universal electron acceptors?
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Nicotinamides (NAD, NADP)
Flavin nucleotides (FAD) |
NADs and FADs
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Where is hexokinase found?
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ubiquitous
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What are the kinetic characteristics of hexokinase in relation to glucose?
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high affinity, low capacity
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hexokinase the the enzyme that converts glucose to G6P in glycolysis
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What product inhibits hexokinase?
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Glucose 6-Phosphate
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hexokinase the the enzyme that converts glucose to G6P in glycolysis
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Where does one find glucokinase?
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in the liver
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glucokinase phosphorylates excess glucose to sequester it in this organ
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What are the kinetic characteristics of glucokinase in relation to glucose?
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low affinity, high capacity
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ensures that it only takes up glucose if there is great excess (e.g., after a meal)
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Where does glycolysis occur in the cell?
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Cytoplasm
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Which enzyme is activated in the fasting state converting fructose-6-phosphate to fructose 2,6-bisphosphate?
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PFK2
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Which enzyme is activated in the fed state converting fructose-2,6-bisphosphatase to fructose 6-phosphatate?
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fructose bisphosphatate-2
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What molecule is the most potent activator of phosphofructokinase, converting fructose-6-phosphate to fructose 1,6-phosphate
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Fructose 2,6 BP
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A deficiency of which glycolytic enzyme is associated with hemolytic anemia?
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pyruvate kinase
G6PDH is not part of glycolysis, it is part of the HMP shunt |
RBCs metabolize glucose anaerobically (no mitochondria) thus solely depend on glycolysis
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What are the only two purely ketogenic amino acids?
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Lysine and Leucine
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What factors increase the activation of the pyruvate dehydrogenase complex?
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Low ATP/ADP ratio (exercise)
high NAD/NADH ratio high IC [Ca] |
you want to activate the TCA cycle when energy stores are low
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How many ATP equivalents are needed to generate glucose from pyruvate?
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6 ATP equivalents
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What are the 4 fates for pyruvate at the end of glycolysis?
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1. Alanine
2. oxaloacetate 3. Acetyl CoA 4. Lactate |
1. used to carry amino groups to the liver from muscle
2. replenish TCA cycle or gluconeogenesis 3. transition from glycolysis to TCA cycle 4. end of anaerobic glycolysis |
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What is the function of the Cori cycle?
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transfers excess reducing equivalents from RBCs and muscle to the liver; shifts the metabolic burden to the liver
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muscles will be able to function anaerobically
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What are the steps in the TCA cycle?
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Citrate > isocitrate > a-ketoglutarate > succinyl CoA > succinate > fumate > malate > OAA
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Can I Keep Selling Sex For Money, Officer?
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What cofactors are required for the a-ketoglutarate dehydrogenase complex?
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B1, B2, B3, B5, lipoic acid
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Same as pyruvate dehydrogenase complex
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Which complexes bring protons across the inner mitochondrial membrane?
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Complexes I, III, IV
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In oxidative phosphorylation, how many ATP are produced from 1 NADH?
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3 ATP
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In oxidative phosphorylation, how many ATP are produced from 1 FADH2?
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2 ATP
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What are the three categories of oxidative phosphorylation poisons?
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1. e- transport inhibitors
2. ATPase inhibitors 3. Uncoupling agents |
1. rotenone, CN-, CO
2. oligomyin 3. aspirin, 2-4-DNP |
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What are the 4 irreversible enzymes of gluconeogenesis and where are they located?
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1. Pyruvate carboxylase (mitochondria)
2. PEP carboxykinase (PEPCK, cytosol) 3. Fructose 1,6-bisphosphatase (cytosol) 4. Glucose 6-phophotase (ER) |
Pathway Produces Fresh Glucose
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What tissues contain the irreversible enzymes of gluconeogenesis?
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liver, kidney, intestinal epithelium
muscle does not contain G6Ptase and cannot participate in gluconeogenesis |
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Deficiency of key gluconeogenic enzymes causes what symptoms?
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hypoglycemia
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The HMP shunt occurs in what parts of the body?
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lactating mammary glands, liver, adrenal cortex
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all sites of fatty acid or steroid synthesis
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In what part of the cell does the HMP shunt occur?
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cytoplasm
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What enzyme is required for the irreversible reaction of the HMP shunt producing NADPH?
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Glucose-6-phosphate dehydrogenase
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What is the product of the reversible reaction of HMP shunt?
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Ribose-5-phosphate (for nucleotide synthesis) and Glyceraldehyde 3-phosphate, fructose 6-phosphate(intermediate of gyloslysis)
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GLUT2 receptors are found in which cells?
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b-cells in the pancreas, Liver, kidney
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GLUT4 receptors are found in which cells?
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Muscles and Fat
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What is the general function of insulin?
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-moves glucose into cells
-inhibits glucagon secretion from a-cells in pancreas |
INsulin moves glucose INto cells
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Which organs do not require insulin for glucose uptake?
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Brain
RBCs Intestine Cornea Kidney Liver |
BRICK L
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What are the anabolic effects of insulin?
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increased glucose transport
increased glycogen synthesis and storage increased triglyceride synthesis and storage increased Na retention increased protein synthesis |
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What is the role of glycogen in skeletal muscle?
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rapidly metabolize glucose during exercise
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What is the role of glycogen in hepatocytes?
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storage depot to maintain blood sugar at appropriate levels.
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What are the main reactions of glycogenesis/degradation?
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G6P > G1P > UDP-glucose > branched version > limit dextran > debranched glycogen
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What are the 4 glycogen storage diseases?
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Von Gierke's Dz (Type I)
Pompe's Dz (Type II) Cori's Dz (Type III) McArdle's Dz (Type V) |
Very Poor Carbohydrate Metabolism
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What are the findings of Von Gierke's Dz?
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severe fasting hypoglycemia, high glycogen in the liver, increased blood lactate, hepatomegaly
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The liver becomes a muscle (think about it)
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What is the deficient enzyme in Von Gierke's Dz?
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Glucose-6-phosphate
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What are the findings of Pompe's dz?
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cardiomegaly and systemic findings leading to early death
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Pompe's trashes the pump (heart, liver and muscle)
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What is the deficient enzyme in Pompe's Dz?
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Lysosomal a-1,4-glucosidase (acid maltase)
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What are the findings of Cori's disease?
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Milder form of Van Gierke's (Type I) with normal blood lactate levels
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What is the deficient enzyme in Cori's Dz?
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debranching enzyme (a-1,6-glucosidase
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What are the findings of McArdle's dz (Type V)?
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increased glycogen in muscle but cannot break it down -> painful cramps and myoglobinuria with strenuous exercise
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McArdles=Muscle
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What is the deficient enzyme in McArdle's Dz?
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skeletal muscle phosphorylase
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A full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the dx?
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PKU
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A stressed executive comes home from work, consumes 7 or 8 martinis in rapid succession before dinner, and becomes hypoglycemic. What is the mechanism?
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Increase in NADH prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
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A 2 year-old girl has an increase in abdominal girth, failure to thrive, and skin and hair depigmentation. What is the dx?
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Kwashiorkor
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Alcoholic develops a rash, diarrhea, and altered mental status. What is the Vitamin Deficiency?
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Vitamin B3 (pellagra)
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A 51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is his dx?
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Alkaptonuria
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A 25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons. What is the dz and where is the defect?
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Familial hypercholesterolemia; LDL receptor
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A woman complains of intense muscle cramps and darkened urine after exercise. What is the dx?
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McArdle's Dz
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Two parents with albinismhave a sone who is normal. Why is the son not affected?
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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,K
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What are the fat soluble vitamins?
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A,D,E,K
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What two organs contribute most to the absorption of fat-soluble vitamins?
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gut (ileum) and pancreas
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What dzs can cause fat soluble vitamin deficiencies?
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Malabsorption syndromes such as CF, celiac sprue; miner oil intake can also cause deficiencies
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Which vitamins are water soluble?
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B1, B2,B3,B5,B6,B12,C,Biotin,Folate
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Which water soluble vitamin does NOT wash out of the body easily and why?
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Vit B12 because it is stored in the liver
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What are some common symptoms of B-complex deficiencies?
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dermatitis, glossitis, and diarrhea
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What is another name for Vitamin A?
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Retinol
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Retin-A skin treatment
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A deficiency in Vitamin A causes what symptoms?
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night blindness, dry skin
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What is the function of Vitamin A?
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constituent of visual pigments
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Excess of Vitamin A causes what symptoms?
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arthralgias, fatigue, headaches, skin changes, sore throat, alopecia
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What is another name for Vitamin B1?
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thiamine
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A deficiency in Vitamin B1 causes what symptoms?
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BeriBeri and Wernike-Korsakoff syndrome
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see it in alcoholics and malnutrition
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What is the function of Vitamin B1?
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a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
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What is another name for Vitamin B2?
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riboflavin
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A deficiency in Vitamin B2 causes what symptoms?
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angular stomatitis, Cheilosis, corneal vascularization
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the 2 C's
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What is the function of Vitamin B2?
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Cofactor for oxidation and reduction (e.g., FADH2)
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B2 = 2 ATP
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What is another name for Vitamin B3?
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niacin
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A deficiency in Vitamin B3 causes what symptoms?
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Pellagra: diarrhea, dermatitis, dementia
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The 4 D's of B3 Deficiency: drunks, diarrhea, dermatitis, dementia
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What is the function of Vitamin B3?
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Constituent of NAD, NADP (redox rxns); derived from tryptophan
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What is another name for Vitamin B5?
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pantothenate
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5=pento=panto
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A deficiency in Vitamin B5 causes what symptoms?
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dermatitis, enteritis, alopecia, adrenal insufficiency
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What is the function of Vitamin B5?
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Constituent of CoA and component of FA synthase
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A deficiency in Vitamin C causes what symptoms?
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Scurvy - swollen gums, bruising, anemia, poor wound healing
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What is the function of Vitamin C?
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needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
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Vitamin C Cross-links collagen
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A deficiency in Vitamin A causes what symptoms?
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night blindness, dry skin
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What is the function of Vitamin A?
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constituent of visual pigments
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Excess of Vitamin A causes what symptoms?
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arthralgias, fatigue, headaches, skin changes, sore throat, alopecia
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What is another name for Vitamin B1?
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thiamine
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What is the function of Vitamin B1?
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a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
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What is another name for Vitamin B2?
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riboflavin
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A deficiency in Vitamin B2 causes what symptoms?
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angular stomatitis, Cheilosis, corneal vascularization
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What is the function of Vitamin B2?
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Cofactor for oxidation and reduction (e.g., FADH2)
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What is another name for Vitamin B3?
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niacin
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A deficiency in Vitamin B3 causes what symptoms?
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Pellagra: diarrhea, dermatitis, dementia
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What is the function of Vitamin B3?
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Constituent of NAD, NADP (redox rxns); derived from tryptophan
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What is another name for Vitamin B5?
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pantothenate
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A deficiency in Vitamin B5 causes what symptoms?
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dermatitis, enteritis, alopecia, adrenal insufficiency
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What is the function of Vitamin B5?
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Constituent of CoA and component of FA synthase
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What is another name for Vitamin B6?
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pyridoxine
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A deficiency in Vitamin B6 causes what symptoms?
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convulsions, hyperirritability, peripheral neuropathy
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What is the function of Vitamin B6?
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converted to pyridoxal phosphate, a cofactor in transanimation, decarboxylation and heme synthesis
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What is another name for Vitamin B12?
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cobalamin
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A deficiency in Vitamin B12 causes what symptoms?
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macrocytic, megaloblastic anemia; neurologic symptoms; glossitis
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What is the function of Vitamin B12?
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cofactor in homocysteine methylation and methylmalonyl Co-A handlining
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B12 is found in what types of foods?
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Only animal products
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What test is used to detect a B12 deficiency?
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Schilling Test
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What are the three main causes of a B12 deficiency?
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Malabsorption, lack of intrinsic factor (pernicious anemia) or absence of terminal ileum (chron's dz)
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A deficiency in folic acid causes what symptoms?
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macrocytic megaloblastic anemia w/o neuro symptoms (unlike B12)
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What is the function of Folic acid?
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coenzyme for 1-carbon transfers (methylation rxns); needed for the synthesis of nitrogenous bases in DNA and RNA
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Supplemental folic acid is given in pregnancy to prevent what defects?
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neural tube
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What is the folic acid precursor in bacteria?
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PABA
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A deficiency in biotin causes what symptoms?
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dermatitis, enteritis
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What is the function of biotin?
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cofactor for carboxylation rxns: pyruvate -> oxaloacetate, Acetyl CoA -> malonyl CoA, Proprionyl CoA -> methylmalonyl CoA
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What is another name for Vitamin C?
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Ascorbic acid
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A deficiency in Vitamin C causes what symptoms?
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Scurvy - swollen gums, bruising, anemia, poor wound healing
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What is the function of Vitamin C?
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needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
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Vitamin C Cross-links collagen
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A deficiency in Vitamin D causes what symptoms?
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Rickets in children and osteomalacia in adults (improper bone mineralization); hypocalcemic tetany
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What is the function of Vitamin D?
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Increased absorption of Ca and P in the gut
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What is the mechanism by which Vitamin D deficiency causes tetany?
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less D -> less Ca -> lowering the membrane potential of a cell -> making it easier to get to threshold for AP
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Excess of Vitamin D causes what symptoms?
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Hypercalcemia, stupor, lossof appetite
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A deficiency in Vitamin E causes what symptoms?
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Increased fragility of erythrocytes, neurodysfunction
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Vitamin E for Erythrocytes
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What is the function of Vitamin E?
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Antioxidant: protects erythrocytes from hemolysis
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A deficiency in Vitamin K causes what symptoms?
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Neonatal hemorrhage with increased PT and PTT, but normal bleeding time (neonates unable to synthesize Vit K)
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K for Koagulation
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What is the function of Vitamin K?
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Catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with clotting; synthesized by intestinal flora
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What can cause a Vitamin K deficiency?
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braod spectrum antibiotics (killing intestinal flora)
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What are the Vitamin K dependent clotting factors?
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II, VII, IX, X, protein C and S
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Which drug is a Vitamin K antagonist?
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Warfarin
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A deficiency in zinc causes what symptoms?
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delayed wound healing, hypogonadism, decreased adult hair
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Outline the pathway of ethanol metabolism.
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ethanol ->[alcohol dehydrogenase] -> Acetaldehyde ->[acetaldehyde dehydrogenase]-> acetate
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What is the limiting reagent in the ethanol metabolism pathway?
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NAD+
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What are the pharmacokinetics of alcohol dehydrogenase?
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zero-order
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Which drug inhibits acetaldehyde dehydrogenase allowing for the accumulation of acetaldehyde and increasing hangover symptoms?
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Disulfiram (anabuse)
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Describe the mechainsm for ethanol hypoglycemia in chronic alcoholics.
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Ethanol metabolism -> increased NADH/NAD+ ratio in liver -> pyruvate diverts to lactate and OAA diverts to malate -> inhibition of gluconeogenesis
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Kwashiorkor is malnutrition resulting from what deficiency?
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protein
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What does a pt with Kwashiorkor look like?
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small child with a swollen belly
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Marasmus is a malnutrition syndrome resulting from what deficiency?
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calories/energy
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What does a pt with marasmus look like?
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small child with tissue and muscle wasting
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Describe the structure of chromatin.
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(-)charged DNA loops choice around nucleosome core to form a nucleosome bead; H1 ties the nucleosomes together in a string
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Beads on a string
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Which is the only histone that is not in the nucleosome core?
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H1
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Which form of chromatin is transcriptionally inactive? Active?
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Inactive: heterochromatin Active: Euchromatin
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Need euchromatin to make You
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Which amino acids are necessary for purine synthesis?
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Glycine, Aspartate, Glutamine
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Which nucleotide bonds are stronger and what is the consequence of this?
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G-C bonds are stronger (3 H-bonds) resulting in a higher melting temperature
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In regards to nucleotides, what is transition?
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substitution of a purine for a purine or pyrimidine for pyrimidine
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In regards to nucleotides, what is transversion?
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substituting purine for pyrimidine or vice versa
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What are the four main features of the genetic code?
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unambiguous, degenerate, nonoverlapping, universal
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What does it mean to say that the genetic code is degenerate?
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more than one codon may code for the same amino acid
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What is the mechanism of base excision repair?
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Glycosylases remove damaged bases, endonuclease cuts DNA at apyrimidinic site, sugar is removed; gap is filled and resealed
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What is the mechanism of mismatch repair?
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unmethylated, newly synthesized string is recognized, mismatched nucleotides are removed; gap is filled and resealed
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Which DNA repair mechanism is mutated in hereditary nonpolyposis colon cancer?
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mismatch repair
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What is the mechanism of nonhomologous end joining?
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bringing together two ends of DNA fragments
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What is the direction of DNA/RNA/protein synthesis?
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5' -> 3'
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How are amino acids joined?
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N to C
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What are the three types of RNA?
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mRNA, tRNA, rRNA
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Which type of RNA is the most abundant?
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rRNA
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Which type of RNA is the largest?
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mRNA
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Which type of RNA is the smallest?
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tRNA
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What is the function of RNA pol-I?
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makes rRNA
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remember that RNA pol-I, II, III are numbered as their products are used in protein synthesis
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What is the function of RNA pol-II?
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Makes mRNA
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remember that RNA pol-I, II, III are numbered as their products are used in protein synthesis
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What is the function of RNA pol-III?
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makes tRNA
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remember that RNA pol-I, II, III are numbered as their products are used in protein synthesis
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What substance, found in death cap mushrooms, inhibits RNA pol-II?
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a-amanitin
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Which codon codes for methionine, thus initiating mRNA?
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AUG
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What are the three stop codons?
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UAA, UAG, UGA
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U Are Awful, U Are Gross, U Go Away
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Which phase of the cell cycle is the shortest?
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Mitosis
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In which phase is new DNA synthesized?
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S phase
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S for synthesis
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What type of cells remain in Go and are regenerated from stem cells?
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Permanent cells such as neurons, skeletal and cardiac muscle, RBCs
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What type of cells enter G1 from Go when stimulated?
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Stable cells such as lymphocytes and hepatocytes
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What type of cells never go to Go and divide rapidly with a short G1?
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Labile cells such as bone marrow, gut epithelium, skin, and hair follicles
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What is the function of the rough ER (RER)?
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synthesis of secretory (exported) proteins and N-linked oligosaccharide addition to many proteins
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What type of cells are rich in RER?
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Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells
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What is the function of Nissl bodies in neurons?
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synthesize enzymes (e.g., ChAT) and peptide neurotransmitters
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What is the function of the smooth ER (SER)?
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site of steroid synthesis and detoxification of drugs and poisons
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What type of cells are rich in SER?
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liver hepatocytes and steroid hormone-producing cells of the adrenal cortex
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What are the 6 main functions of the Golgi apparatus?
|
taking protwins and lipids from the ER to the PM/lysosomes/secretory vesicles, 2. Modifies N-oligosac. On asparagine, 3. adds O-oligosac to Ser and Thr, 4. addd mannose-6P to lysosomal proteins (targeting to lysosome), 5. prtoeoglycan assembly, 6. sulfation of sugar on proteoglycans
|
|
|
|
What is the pathophys of I-cell disease and what are the consequences?
|
mannose-6P cannot be added to the lysosomal proteins so enzymes are secreted out of the cell instead of being targeted to the lysosome
|
|
|
|
What are the characteristics of I-cell disease?
|
coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes. Can be fatal in childhood
|
|
|
|
What are the three main cvesicular trafficking proteins and where do they go?
|
1. COP-I: retrograde, Golgi -> ER; 2. COP-II anterograde, RER -> cis-Golgi, 3.Clathrin: trans-Golgi->lysosomes, plasma membrane->endosomes (receptor mediated endocytosis)
|
|
|
|
In what cellular structures would one find microtubules?
|
flagella, cilia, mitotic spindles
|
|
|
|
What are the four main drugs that act on microtubules and for what dz?
|
1. Mebendazole/thiabendazole (antihelminthic), 2. Taxol (anti-breast ca), 3. Grisofulvin (antifungal), 4. Vineristine/vinblastine (anti-ca), 5. Colchicine (anti-gout)
|
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|
|
What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?
|
Chediak-Higashi
|
|
|
|
Describe the structure of cilia.
|
9+2 arrangement of microtubules; doublets linked by dynein ATPase and allows for the bending of cilia
|
|
|
|
Which protein is responsible for retrograde motion of cilia? Anterograde?
|
retrograde = dynein, anterograde = kinesin
|
|
|
|
What is Kartagener's syndrome?
|
immobile cilia due to a dynein arm defect
|
|
|
|
What are the symptoms of Kartagener's syndrome?
|
infertility in both males and females, bronchiectasis, recurrent sinitus (any place where cilia are moving things around)
|
|
|
|
What are the two most abundant components of the plasma membrane?
|
cholesterol and phospholipids
|
|
|
|
What is the major component of RBC membranes, myelin, bile and surfactant?
|
phosphatidylcholine (lecithin)
|
|
|
|
What is the NA/ K exchange ratio in a Na/K ATPase pump?
|
3 Na out:2 K in
|
|
|
|
Explain when in the exchange is the Na/K ATPase pump phosphorylated/dephos?
|
Phosphorylated to let Na out (ATP->ADP) and dephosphorylated to let K in
|
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|
|
What is the most abundant protein in the human body?
|
collagen
|
|
|
|
90% of all collagen is of what type?
|
Type I
|
|
|
|
Type I collagen provides support for which organs/functions?
|
Bone, Skin, Tendon, dentin, fascia, cornea, late wound repair
|
Type I = bONE
|
|
|
Type II collagen provides support for which organs/functions?
|
Cartilage, vitreous body, nucleus pulposus
|
Type II = carTWOlage
|
|
|
Type III collagen provides support for which organs/functions?
|
Reticulin: skin, blood vessels, uterus, fetal tissue, granulation tissue
|
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|
Type IV collagen provides support for which organs/functions?
|
Basement membrane or basa lamina
|
Type IV: under the FLOOR
|
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|
What are the four phases of collagen synthesis in the fibroblasts and where do they take place?
|
1. synthesis (RER), 2. hydroxylation (ER), 3. glycosylation (Golgi), 4. exocytosis as procollagen
|
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|
What are the two phases of collagen synthesis that occur outside of the fibroblasts?
|
1. proteolytic processing (procollagen ->tropocollagen), 2. cross-linking by covalent Lys-hydroxylysine = collagen fibrils
|
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|
|
What stage of collagen synthesis requires Vitamin C?
|
hydroxylation in the ER
|
|
|
|
What are the three signs of Ehlers-Danlos syndrome?
|
1. hyperextensible skin, 2. tendency to bleed, 3. hypermobile joints (faulty collagen synthesis)
|
|
|
|
What type of collagen is most affected by Ehlers-Danlo syndrome?
|
Type III (blood vessel instability)
|
|
|
|
What is the most common form of osteogenesis imperfecta?
|
AD inheritance with abnl Type I synthesis
|
|
|
|
What are the key clinical features of osteogenesis imperfecta?
|
1. multiple fractures from minimal trauma (brittle bone), 2. blue sclerae (translucency of connective tissue over the choroid), 3. hearing loss, 4. dental imperfections
|
|
|
|
What may osteogenesis imperfecta be confused with upon examination?
|
child abuse
|
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|
|
For the following cell type, state the immunohistochemical stain used to see it: connective tissue
|
Vimentin
|
|
|
|
For the following cell type, state the immunohistochemical stain used to see it: Muscle
|
Desmin
|
|
|
|
For the following cell type, state the immunohistochemical stain used to see it: Epithelial cells
|
cytokeratin
|
|
|
|
For the following cell type, state the immunohistochemical stain used to see it: Neuroglia
|
glial fibrillary acid proteins (GFAP)
|
|
|
|
For the following cell type, state the immunohistochemical stain used to see it: neurons
|
neurofilaments
|
|
|
|
In what structures does one find elastin?
|
lungs, large arteries, elastic ligaments
|
|
|
|
Elastin is rich in which two amino acids?
|
Proline and lysine
|
|
|
|
Marfan syndrome is caused by a defect in which component of elastin?
|
fibrillin
|
|
|
|
Elastase is inhibited in which disease? (Hint: it also causes early-onset emphysema)
|
a1-antitrypsin deficiency
|
|
|
|
What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?
|
Chediak-Higashi
|
|
|
|
Fructose intolerance is a hereditary deficiency of what enzyme?
|
Aldolase B
|
|
|
|
What is the pathophys of fructose intolerance?
|
fructose-1-P accumulates causing decreased available phosphate resulting in inhibition of glycogenolysis and gluconeogenesis
|
|
|
|
What is the tx for fructose intolerance?
|
decrease intake of both fructose and sucrose (glucose and fructose)
|
|
|
|
Essential fructosuria is a defect in which enzyme?
|
fructokinase
|
|
|
|
Galactosemia results from the absence in what enzyme?
|
galactose-1-phosphate uridyltransferase
|
|
|
|
What is the pattern of inheritance in galactosemia?
|
AR
|
|
|
|
What are the symptoms of galactosemia?
|
cataracts, hepatosplenomegaly, mental retardation
|
|
|
|
Lactase deficiency is a hereditary lactose intolerance due to a loss of what type of enzyme?
|
Brush border enzyme
|
|
|
|
What demographic is most susceptible to lactase deficiency and what are the sx?
|
blacks, Asians; bloating, cramps, osmotic diarrhea
|
|
|
|
What are the essential amino acids?
|
Phe, Val, Trp, Thr, Ile, Met, His, Arg, Leu, Lys
|
|
|
|
what is the pathophys of hyperammonemia?
|
excess NH4 depletes a-ketoglutarate, leading to inhibition of TCA cycle
|
|
|
|
What are the sx of ammonia intoxication?
|
tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring vision
|
|
|
|
What are the three main derivatives of phenylalanine?
|
Dopamine, NE, Epi
|
|
|
|
What are the three main derivatives of tryptophan?
|
Niacin, serotonin, melatonin
|
|
|
|
What causes the musty odor of PKU?
|
disorder of excess aromatic amino acids
|
|
|
|
Variable inheritance of albinism is due to what genetic mechanism?
|
locus heterozygosity
|
|
|
|
Albinism is a congential deficiency one of which two items?
|
1. Tyrosine (auto. Recess.) or 2. defective tyrosine transporters
|
|
|
|
All forms of homocystinuria have wha inheritance pattern?
|
autosomal recessive
|
|
|
|
What are the sx of homocystinuria?
|
mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis (stroke and MI)
|
|
|
|
The conversion of methionine to cysteine is dependent on which two vitamins?
|
B6 (homocysteine to cystothionine) and B12 (homocysteine back to Met)
|
|
|
|
Maple syrup urine disease is due to what defect?
|
Blocked degradation of branced amino acid (Ile, Val, Leu) due to decreased a-ketoacid dehydrogenase
|
|
|
|
What are the sx of maple syrup urine disease?
|
CNS defecs, mental retardation and death
|
|
|
|
Adenosine deanimase deficiency can cause what other major immunologic complication?
|
SCID
|
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Fabry's Dz
|
1. peripheral neuropathy of hands/feet, CV/renal dz
2. a-galactosidase A 3. ceramide trihexoside 4. XR |
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Gaucher's Dz
|
1. hepatosplenomegally, aseptic necrosis of femur, bone crises, Gaucher cells (macrophages)
2. B-glucocerebrosidase 3. glucocerebroside 4. AR Most common lysosomal storage dz |
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Neimann-Pick
|
1. progressive neurodegeneration, hepatosplenomegally, cherry red spot (on macula)
2. Sphingomyelinase 3. Shingomyelin 4. AR |
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Tay-Sachs
|
1. progressive neurodegeneration, developmental delay, lysozymes with onion skin
2. Hexosaminidase A 3. GM2 ganglioside 4. AR |
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Krabbe's dz
|
1. peripheral neuropathy, developmental delay, optic atrophy
2. B-galactosidase 3. Galactocerebroside 4. AR |
|
|
|
For the following lysosomal storage dz state (1) main findings, (2) deficient enzyme, (3)accumulated substrate and (4) inheritance pattern: Metachromic leukodystrophy
|
1. central and peripheral demyelination with ataxia and dementia
2. Arylsulfatase A 3. Cerebroside sulfate 4. AR |
|
|
|
In fatty acid synthesis, the conversion of Acetyl-CoA to Malonyl CoA requires what cofactor?
|
Biotin
|
|
|
|
In fatty acid synthesis, what mechanism carries acetyl CoA across the inner mitochondril membrane into the cytoplasm?
|
Citrate shuttle
|
|
|
|
In fatty acid degradation, what mechanism carries acyl CoA across the inner mitochondrial membrane into the mitochondria?
|
carnitine shuttle
|
|
|
|
What is the rate limiting step in fatty acid degradation?
|
Carnitine shuttle
|
|
|
|
Under what physiological conditions will one see ketone bodies?
|
DKA or prolonged starvation
|
|
|
|
The rate limiting step in cholesterol synthesis is catalyzed by which enzyme?
|
HMG-CoA reductase
|
|
|
|
What is the classification of the drug Lovastatin?
|
HMG-CoA reductase inhibitor
|
|
|
|
What are the two essential fatty acids?
|
Linoeic acid and linolenic acid
|
|
|
|
What is the function of pancreatic lipase?
|
degradation of TG in sm intestine
|
|
|
|
What is the function of lipoprotein lipase?
|
degradation of TG circulating in chylomicrons and VLDLs
|
|
|
|
What is the function of Hepatic TG lipase?
|
degradation of TG remaining in IDL
|
|
|
|
What is the function of hormone-sensitive lipase?
|
Degradation of TG stored in adipocytes
|
|
|
|
What is the funtion of lecithin-cholesterol acyltransferase (LCAT)?
|
catalyzes the esterification of cholesterol
|
|
|
|
what is the function of cholesterol ester transfer protein (CETP)?
|
mediated the transfer of cholesterol esters to other lipoprotein particles
|
|
|
|
What is the role of apolipoprotein A-I?
|
activates LCAT
|
|
|
|
What is the role of apolipoprotein B-100?
|
binds to LDL receptor, mediates VLDL secretion
|
|
|
|
What is the role of apolipoprotein C-II?
|
cofactor for lipoprotein lipase
|
|
|
|
What is the role of apolipoprotein B-48?
|
mediates chylomicrom secretion
|
|
|
|
What is the role of apolipoprotein E?
|
Mediates remnant uptake (Extra uptake)
|
|
|
|
What is the function of the following lipoprotein: Chylomicron
|
delivers dietary TGs to peripheral tissues and cholesterol to the liver
|
|
|
|
What apo's are associated with chylomicrons?
|
B-48, A,C, and E
|
|
|
|
What is the function of the following lipoprotein: VLDL
|
delivers hepatic TGs to peripheral tissues
|
|
|
|
what apos are associated with VLDL?
|
B-100, C-II and E
|
|
|
|
What is the function of the following lipoprotein: IDL
|
Delivers TGs and cholesterol to the liver to be degraded to LDL
|
|
|
|
What apos are associated with IDL?
|
B-100 and E
|
|
|
|
What is the function of the following lipoprotein: LDL
|
delivers hepatic cholesterol to peripheral tissues
|
|
|
|
What apos are associated with LDL?
|
B-100
|
|
|
|
What is the function of the following lipoprotein: HDL
|
mediates centripital transport of cholesterol (periphery to liver); repository for apoC and apoE
|
|
|
|
Hypercholesterolemia has which Family type? what is increased?
|
Type IIa
Increased LDL |
|
|
|
Combined hypercholesterolemia has which familial type? what is increased?
|
Type IIb
LDL, VLDL both increased |
|
|
|
Hypertriglyceridemia has which familial type? what is increased?
|
Type IV
VLDL increased |
|
|
|
Type IIa hypercholesterolemia has what pathophysiology?
|
decreased number of LDL receptors
|
|
|
|
What metabolic processes occur solely in the mitochondria?
|
FA oxidation (b-oxidation), acetyl CoA production, Krebs
|
|
|
|
What metabolic processes occur solely in the cytoplasm?
|
glycolysis, FA synthesis, HMP shunt, protein synthesis (RER), steroid synthesis (SER)
|
|
|
|
What metabolic processes occur in both the mitochondria and the cytoplasm?
|
Gluconeogenesis, urea cycle, heme synthesis
|
|
|
|
Regeneration of methionine (and thus S-adenosyl-methionine/SAM) is dependent on what factor?
|
B12
|
|
|
|
What three enzymes are associated with respiratory burst in the phagolysosome?
|
NADPH oxidase
Superoxide dismutase Myeloperoxidase |
|
|
|
What three enzymes are associated with oxidative burst in the neutrophil?
|
Catalase/glutathione peroxidase
Glutathione reductase G6PD |
|
|
|
Fructose intolerance is an inherent deficiency of what enzyme?
|
aldolase B
|
|
|
|
What metabolic processes are inhibited from a fructose deficiency?
|
glyogenolysis and gluconeogenesis
|
|
|
|
What are the symptoms of fructose intolerance?
|
hypoglycemia, jaundice, cirrhosis, vomiting
|
|
|
|
What is the treatment for fructose intolerance?
|
decrease intake of fructose and sucrose (glucose and fructose)
|
|
|
|
the appearance of fructose in the blood or urine is due to a defect in what enzyme? What is the px?
|
fructokinase; the condition in benign and asymptomatic
|
|
|
|
Galactosemia is caused by the absence of what enzyme?
|
galactose-1-phosphate uridyltransferase
|
|
|
|
What is the inheritance pattern and sx of galactosemia?
|
AR; cataracts, hepatosplenomegally, mental retardation
|
|
|
|
Lactase deficiency is due to a loss of the enzyme from what area of the body?
|
Brush border
|
|
|
|
What are the symptoms of lactase deficiency?
|
bloating, cramps, osmotic diarrhea
|
|
|
|
Which are the essential amino acids?
|
Leu, Lys, Ile, Phe, Trp, Met, Thr, Val, Arg, His
|
|
|
|
Which two essential amino acids are increased in histones which bind negatively charged DNA?
|
Arg, Lys
|
|
|
|
What is the direct effect of excess NH4 (hyperammonemia) on metabolism?
|
depletes a-ketoglutarate -> inhibition of the TCA cycle
|
|
|
|
What is the treatment for hyperammonenmia?
|
Arginine
|
|
|
|
What are the signs of ammonia intoxication?
|
tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
|
|
|
|
What is the fnxn of the urea cycle?
|
to degrade amino acids into amino groups
|
|
|
|
What are the 8 main players in the urea cycle?
|
Ornithine, Carbamoyl, Citruline, Aspartate, Argininosuccinate, Fumarate, Arginine, Urea
Ordinarily Careless, Crappers Are Also Frivolous About Urination |
|
|
|
What are the main derivatives of Phenylalanine?
|
Tyrosine
Dopamine NE EPI |
|
|
|
What are the main derivatives of Tryptophan?
|
Niacin (NAD/NADP)
Serotonin Melatonin |
|
|
|
What are the main derivatives of Histidine?
|
Histamine
|
|
|
|
What are the main derivatives of Glycine?
|
Heme
|
|
|
|
What are the main derivatives of Arginine?
|
Creatine
Urea NO |
|
|
|
What are the main derivatives of glutamate?
|
GABA
|
|
|
|
What enzyme is decreased in PKU?
|
phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)
|
|
|
|
What is the treatment for PKU?
|
Decrease phenylalanine and increase tyrosine
|
|
|
|
Alkaptonuria is caused by a deficiency of what enzyme?
|
homogentisic acid oxidase (alkapton bodies cause urine to turn black when standing)
|
|
|
|
Abinism is a congenital deficiency in what two factors?
|
Either tyrosinase or defective tyrosine transporters
|
|
|
|
Albinism exhibits variable inheritance due to what mechanism?
|
locus heterozygosity
|
|
|
|
What is the inheritance pattern for all three forms of homocystinuria?
|
AR
|
|
|
|
What are the three forms of homocystinuria?
|
1. cystathionine synthase deficiency
2. decreased affinity of cystathionine synthase for pyridoxal phosphate 3. methionine synthase deficiency |
|
|
|
Cystinuria is a common inherited defect of...
|
the renal tubular amino acid transporter for cystine, ornithine, lysine, and arginine
|
|
|
|
What can be a sequellae of excess cystine in the urine?
|
cystine kidney stones
|
|
|
|
What is the treatment for cystinuria?
|
acetazolamide (alkalinize the urine)
|
|
|
|
Maple syrup urine disease is caused by a decrease in which enzyme?
|
a-ketoacid dehydrogenase
|
|
|
|
Which amino acids canno be degraded in maple syrup urine disease?
|
Ile, Leu, Val
I Love Vermont maple syrup |
|
|
|
What is codominance?
|
Neither of two alleles is dominant (e.g. blood groups)
|
|
|
|
What is variable expression?
|
nature and severity of the phenotype varies from 1 individual to another
|
|
|
|
What is incomplete penetrance?
|
Not all individuals with a mutant genotype show the mutant phenotype
|
|
|
|
What is pleiotropy?
|
1 gene has > 1 effect on an individual's phenotype
|
|
|
|
What is imprinting?
|
At a single locus, only one allele is active; the other is inactive (methylation).Differneces in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. Prader-Willi = paternal)
|
|
|
|
What is anticipation?
|
Severity of disease worsens or age of onset of disease is earlier in succeeding generations (e.g. Huntington's)
|
|
|
|
What is loss of heterozygosity?
|
If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before the cancer develops (NOT true of oncogenes)
|
|
|
|
What is a dominant negative mutation?
|
exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
|
|
|
|
What is linkage disequilibrium?
|
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
|
|
|
|
What is mosacism?
|
when cells in the body have different genetic makeup (e.g.lyonization--random X inactivation in females)
|
|
|
|
What is locus heterogeneity?
|
Mutations at different loci can produce the same phenotype
|
|
|
|
If a population is in Hardy-weinberg equilibrium, how do you measure allele prevalence?
|
p^2 + 2pq + q^2 = 1, p and q are separate alleles and 2pq is the prevalence of heterozygotes
|
|
|
|
If a population is in Hardy-weinberg equilibrium, how do you measure allele prevalence?
|
p + q = 1
|
|
|
|
What are the 4 assumptions of Hardy-Weinberg law?
|
1. no mutation, 2. no selection for any of the genotypes at a locus, 3. Random mating, 4. no migration into or out of a population
|
|
|
|
In Prader-Willi, whose normally active allele is deleted (maternal or paternal)?
|
Paternal (opposite for angelman's)
|
|
|
|
What are some of the features of autosomal dominant inheritance?
|
many generations affected; both male and female; often pleiotropic; present after puberty
|
|
|
|
What are some of the features of autosomal recessive inheritance?
|
25% of offspring from 2 carrier parents affected; due to enzyme deficiencies; usually only seen in 1 generation; more severe than AD; presents in childhood
|
|
|
|
What are some of the features of X-linked recessive inheritance?
|
Sons of heterozygous mothers have a 50% chance; commonly more severe in males but heterozygous females may be affected
|
|
|
|
What are some of the features of X-linked dominant inheritance?
|
transmitted through both parents; ALL female offspring of an affected father will be diseased (either male of female from mother); hypophosphatemic rickets
|
|
|
|
What are some of the features of mitochondrial inheritance?
|
transmitted only through mother; all offspring of affected mother show disease; Leber's hereditary optic neuropathy
|
|
|
|
Mode of inheritance and major features: APKD
|
AD; always bilateral; mutation in APKD1 (Chr 16); berry aneurysms, mitral valve prolapse (juvie form is recessive)
|
|
|
|
Mode of inheritance and major features: familial hypercholesterolemia
|
AD; elevated LDL from a defective or absent LDL receptor; severe atherosclerosis disease at young age; tendon xanthomas (achilles); may have MI before age 20
|
|
|
|
Mode of inheritance and major features: Marfan's Syndrome
|
AD; fibrilin gene mutation = connective tissue disorders; tall; aortic incomptenece and dissecting aortic aneurysms; floppy mitral valve
|
|
|
|
Mode of inheritance and major features: Neurofibromatosis, type 1
|
AD long arm of chr. 17; café-au-lait spots; neural tumors; Lisch nodules (pigmented iris hamartomas); pheo's
|
|
|
|
Mode of inheritance and major features: Neurofibromatosis, type 2
|
AD; bilateral acoustic neuroma, juvenile cataracts; NF2 gene on chr 22 (type 2 = 22)
|
|
|
|
Mode of inheritance and major features: tuberous sclerosis
|
AD; facial lesions (adenoma sebaceum); hypopigmented "ash leaf spots" on skin; cardiac rhabdomyomas; incomplete penetrance/variable presentation
|
|
|
|
Mode of inheritance and major features: von Hippel-Lindau dz (VHL)
|
AD; hemangioblastomas of the retina/cerebellum/medulla; 50% develop multiple bilateral renal cell carcinomas; deletion of VHL gene on Chr 3 (three words for Chr 3)
|
|
|
|
Mode of inheritance and major features: Huntington's
|
AD; triplet repeat disorder on chr 4; depression; progressive dementia; choreiform movements; caudate atrophy; decreased levels of GABA and ACh in brain
|
|
|
|
Mode of inheritance and major features: Familial adenomatus polyposis
|
AD; progresses to colon cancer unless resected; Deletion on chr. 5 (5 letters in polyp)
|
|
|
|
Mode of inheritance and major features: Hereditary spherocytosis
|
AD; spheroid erythrocytes; hemolytic anemia; increases MCHC; splenectomy is curative
|
|
|
|
Mode of inheritance and major features: Achondroplasia
|
AD; cell-signalling defect of fibroblast growth factor (FGF) receptor 3; dwarfism (short limbs but head and truck are normal size); associated with advanced PATERNAL age
|
|
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What gene is defective in cystic fibrosis?
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CFTR on chromosome 7
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What are the typical manifestations of a pt with CF?
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recurrent pulmonary infections; infertility in males (absent vas deferens); fat soluble vitamin deficiencies
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What is the treatment for CF?
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n-acetylcysteine to loosen mucous plugs
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What are the typical X-linked recessive disorders?
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Bruton's agammaglobulinemia, Fragile X, G6PD deficiency, ocular albinism, Lesch-Nyhan, Duchenne's, Hemophilia A and B, Fabry's dz, Hunter's syndrome
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Duchenne's MD is caused by what type of genetic mutation?
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Frame shift leading to deletion of the dystrophin gene
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What movement is a diagnostic sign of Duchenne's MD?
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Gower's maneuver
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What is the less severe form of duchenne's MD?
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Becker's
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What is the 2nd most common cause of genetic mental retardation after Down's?
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Fragile X syndrome
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What are the clinical features of Fragile X syndrome?
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macro-orchidism, long face with a large jaw; large everted ears; autism
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What type of disorder is Fragile X?
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Triple repeat (CGG) - may show anticipation
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What are the trinucleotide repeat diseass?
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Huntington's, myotonic dystrophy, Friedreich's ataxia, Fragile X
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What are the three autosomal trisomies and which chr's are affected?
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Down's (21); Edward's (18); Patau (13)
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What are the prenatal signs of Down's?
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decreased a-fetoprotein, increased b-hCG, increased nuchal translucency
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Pts with Down's are at risk of developing what neurological disorder?
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early-onset Alzheimer's
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95% of Down's cases are due to what problem in meiosis? What is the associated parental "problem"?
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meiotic nondisjunction of homologous chromosomes; associated with advanced maternal age
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Cri-du-chat is associated with what chromosomal abnormality?
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congenital deletion of short arm of chr 5
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22q11 syndromes are associted with what signs/symptoms?
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cleft papate, abnormal facies, thymic aplasia (t-cell deficiency), cardiac defects, hypocalcemia 2' to parathyroid aplasia; variable presentation as DiGeorge
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When are the risks for fetal alcohol syndrome the greatest?
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3-8 weeks
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What is the #1 cause of congenital malformations in the US?
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Fetal Alcohol Syndrome
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