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158 Cards in this Set
- Front
- Back
- 3rd side (hint)
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What enzyme is defective in metochromatic leukodystrophy?
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Arylsulfatase A
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Trinucleodtide repeat associated with Friedrich's ataxia.
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GAA
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Trinucleodtide repeat associated with Fragile X syndrome.
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CGG
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Trinucleodtide repeat associated with Myotonic dystrophy.
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CTG
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Trinucleodtide repeat associated with Huntington's disease.
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CAG
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What type of collagen is defected in osteogenesis imperfecta?
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Type I
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What type of osteogenesis imperfecta normally results in death in utero?
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Type II
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What type of collagen is defected in Alport Syndrome
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Type IV
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What type of collagen is defected in Ehlers-Danlos syndrome?
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Type III
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How does Type IIa familial dyslipidemia manifest?
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-hypercholesterolemia-->high total cholesterol and high LDL
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Describe the MOA of I-cell disease.
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Results from failure of the golgi apparatus to add mannose-6-phosphate to lysosomal proteins.
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What does lac operon family of proteins do?
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pertains to the metabolism of lactose
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What does Bcl-2 family of proteins do?
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-dually functioning protein that has both anti- and pro-apoptotic mediators.
-over expression in lymphocytes can lead to cancer -rogue genes will establish channels and alter pH and Ca+ flow |
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What does RAS family of proteins do?
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-signal transductor
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What does p53 family of proteins do?
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tumor suppressor that may trigger apoptosis
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What does BRCA family of proteins do?
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-DNA repair gene
-linked to beast cancer when mutated |
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Describe Type I hyperlipidemia.
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-Patient has either: 1. lipoprotein lipase deficiency, 2. abnormal lipoprotein lipase, 3. apo-CII defects
-hypertriglyceridemia with elevated chylomicrons and VLDLs -LDL and HDLs low -treat with low fat diet -autosomal recessive |
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Describe Type IIA hyperlipidemia.
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-Patient has defect in the LDL receptor
-LDL levels elevated -autosomal dominant |
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Describe Type IIB hyperlipidemia.
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-Patient has mutant apoprotein B100
-increased LDL and VLDL -autosomal dominant |
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Describe Type III hyperlipidemia.
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-Patient has mutant apoprotein E
-increased chylomicrons, IDL, LDL and VLDL -decreased HDL |
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Describe Type IV hyperlipidemia.
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-Overproduction of VLDL in association with glucose intolderance and hyperinsulinemia
-hypercholesterolemia with low LDL and HDL -autosomal dominant |
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Describe Type V hyperlipidemia.
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-Elevated chylomicrons and VLDLs
-high total cholesterol with low LDL and HDL |
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What is the enzyme that makes cAMP?
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adenylyl cyclase
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What is the enzyme that breaks down cAMP?
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phosphodiesterase
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What is the rate limiting enzyme of triglyceride breakdown?
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hormone sensitive lipase
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What is the rate limiting enzyme of the production of cholesterol?
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HMG CoA reductase
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What is the rate limiting enzyme of fat synthesis?
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Acetyl CoA carboxylase
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What is the first fatty acid that is made in the body (all other fatty acids are made from it?)
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palmitate-->16 carbon saturated
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What are stimulators and inhibitors of Acetyl CoA carboxylase?
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stimulated by insulin
inhibited by glucagon and Epinephrine |
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Where does fatty acid synthesis take place?
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the cytoplasm of the liver
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What are the essential fatty acids?
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linolenic and linoleic acid
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Why may infants or dialysis patients have raised FFA levels and hypoglycemia?
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-Due to decreased carnitine levels, the transferases levels are low and thus there is decreases fatty acid oxidation.
-ketone bodies are never made |
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What is arachidonic acid the precursor for?
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prostaglandins, thromboxane, leukotrienes
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What do prostaglandins do?
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Cause vasodilation, exudation and pain
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What do does thromboxane do?
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Causes platelet aggregation and vasconstriction
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What do leukotrienes do?
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cause POTENT bronchoconstriction
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What dos cyclooxygenase catalase?
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The conversion of arachidonic acid to prostaglandins (and then thromboane)
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Where are the primary bile acids made?
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In the liver from cholesterol
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Where are the secondary bile acids made?
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In the intestine by bacteria from bile acids
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Which part of the blood vessel is excess LDL-cholesterol deposited?
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intima (inner lining)
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What is the only phospholipid that is antigenic to humans?
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cardiolipin
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What phospholipid is the primary component of surfactant?
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phosphatidyl choline
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What do sphingolipids comprise?
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Along with long chain FAs, they comprise the bulk of the myelin sheath that insulates nerve fibers of the CNS.
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What are the characteristics of Niemann-Pick disease?
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hepatosplenomegaly
MR-severe cherry red macula fatal early in life |
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What is the defective enzyme in Niemann-Pick disease?
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sphingomyelinase
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What accumulates in Niemann-Pick disease?
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sphingomyelin
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What are the characteristics of Gaucher's disease?
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hepatosplenomegaly
MR erosion of long bones/osteoporosis Ashkenazi Jews |
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What is the defective enzyme in Gaucher's disease?
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B-glucosidase
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What accumulates in Gaucher's disease?
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Cerebroside
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What are the characteristics of Krabbe's disease?
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MR-severe
blindness, deafness, convulsions, paralysis (due to almost complete abscence of myelin) fatal early in life |
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What is the defective enzyme in Krabbe's disease?
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B-galactosidase
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What accumulates in Krabbe's disease?
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Cerebroside (BBC)
Galactocerebroside (FA) |
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What are the characteristics of Fabry's disease?
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Angiokeratomas
Reddish-purple rash kidney failure heart failure |
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What enzyme is defective in Fabry's disease?
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alpha-galactosidase
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What accumulates in Fabry's disease?
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Ceramide trihexoside (FA)
globoside (BBC) |
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What are the characteristics of metochromatic dystrophy disease?
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MR
psychiatric problems, dementia progressive paralysis |
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What enzyme is defective in metochromatic dystrophy disease?
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aryl sulfatase
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What accumulates in metochromatic dystrophy disease?
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cerebroside sulfate
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What are the characteristics of Tay-Sachs disease?
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MR
cherry red macula blindness |
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What enzyme is defective in Tay-sachs disease?
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hexosaminidase A
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What accumulates in Tay-Sachs disease?
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degraded ganglioside (FA says GM2 ganglioside)
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From what amino acid does dopamine, NE, and Epi originate?
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Phenylalanine
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From what amino acid is niacin (vitamin B3) maufactured?
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tryptophan
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What are the two forms of niacin?
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Nicotinamide and Nicotinate
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From what molecule is melatonin derived?
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Serotonin (and originally the amino acid tyrptophan)
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What vitamin is used a cofactor in the conversion of glutamate to GABA?
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PLP-->vitamin B6
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What amino acid is responsible for the creation of heme?
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Glycine
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Creatine is derived from what amino acid?
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Glycine
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Lead inhibits what two steps in the synthesis of heme?
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-Inhibits the enzyme delta-ALA dehydrase, inhibiting the creation of porphobilinogen
-Inhibits the enzyme ferrochelatase, inhibiting the creation of heme from protoporphyrin IX |
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What is the danger of high homocysteine levels?
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-more prove to early onset atherosclerosis
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What enzyme is deficient in PKU?
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phenylalanine hydroxylase
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What accumulates and what is decreased in PKU?
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Phenyl ketones accumulate and DOPA, Epi, and NE levels are decreased
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What enzyme is decreased in alpatonuria?
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homogentisate oxidase
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What enzyme is deficient in Maple syrup urine Disease
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alpha ketoacid dehydrogenase
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What enzyme is deficient in Homocystinura?
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Cystathionine synthase
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How does homocystinuria present?
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-MR
-lens dislocation -increased CAD -traps adenosine as free SAH-->decreased ATP can be made -increased platelet aggregation and endothelial damage |
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What is the problem in cystinuria?
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Defect in the membrane transport of dibasic amino acids (cysteine, ornithine, arginine, lysine).
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What is Hartnup disease?
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-decreased serum tryptophan due to defect in membrane transport
-pellagra due to niacin deficiency |
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What comprises maltose?
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glucose + glucose
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What comprises lactose?
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glucose + galactose
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What comprises sucrose?
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glucose + fructose
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What is the defective enzyme in Fructose intolerance?
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Aldolase B
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What molecule accumulates in fructose intolerance?
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fructose-1, 6-PO4 and all other molecules in front of it in glycolysis including glucose-6-PO4, which leads to the body shutting down glycogenolysis and gluconeogensis
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Describe the signs and symptoms of galactosuria.
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-Autosomal recessive
-Increased serum galactose -MR and physical stunting -possible cataracts -liver failure |
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What is the rate limiting enzyme to glycogen synthesis?
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Glycogen synthase
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What enzyme is lacking in Von Gierke's disease?
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Glucose-6-phosphatase
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What accumulates in Von Gierke's disease?
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G-6-P and G-1-P
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What are the signs and symptoms of Von Gierke's?
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-hypoglycemia because of constant stimulation of glycogenesis and inhibition of glycogenolysis
-hepatomegaly -enlarged kidneys |
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What are the signs and symptoms of Pompe's?
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-hepatomegaly
-cardiomegaly -muscle hypotonia death by age 2 |
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What enzyme is lacking in Pompe disease?
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lysosomal alpha 1, 4 glycosidase
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What accumulates in Pompe disease?
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-glycogen
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What enzyme is lacking on Cori disease?
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debranching enzyme (alpha 1, 6 glucosidase)
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What accumulates in Cori disease?
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branch points of glycogen
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What are the signs and symptoms of Cori disease?
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hepatomegaly-->may not develop until 20s
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What enzyme is lacking in McArdle disease?
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skeletal muscle phorphorylase
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What accumulates in McArdle disease?
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glycogen in skeletal muscle
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What are the signs and symptoms of McArdle disease?
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-muscle pain and cramps in excercice
-no rise in lactate during excercise -progressive muscle weakness |
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What is the defective enzyme in Hurler disease?
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alpha-L iduronidase
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What accumulates in Hurler disease?
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heparan sulfate
dermatan sulfate |
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What are the physical findings in Hurler disease?
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corneal clouding
MR myocardial ischemia coarse facial features dwarfing |
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What is the defective ezyme in Schie disease?
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alpha-L iduronidase
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What accumulates in Scheie syndrome?
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Heparan sulfate
Dermatan sulfate |
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What are the physical findings in Scheie syndrome?
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corneal clouding
NORMAL intelligence aortic valve disease stiff joints |
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What is the deficient enzyme in Hunter's?
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iduronate sulfatase
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What accumulates in Hunters?
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Heparan sulfate
Dermatan sulfate |
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What are the physical findings in Hunters?
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NO corneal clouding
MR various physical deformities |
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Which porphyria is NOT AD?
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congenital erythropoietic porphyria-->AR
acquired |
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At what point in the porphyria chain ist acute intermittent located?
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In the conversion of porphobilinogen to hydroxymethylbilinogen
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At what point in the porphyria chain is congenital erythropoietic located?
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In the conversion of hydroxymethylbilinogen to uroporphyrinogen III
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At what point in the porphyria chain is cutanea tarda located?
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In the conversion of uroporphyrinogen III to coproporphyrinogen
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At what point in the porphyria chain is coproporphria located?
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In the conversion of coproporphyrinogen to protoporphyrinogen.
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What are the substrates of gluconeogenesis?
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lactic acid, glycerol, alpha-ketoacids
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Which vitamin is important for hydroxylation of proline and lysine for collagen synthesis?
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Vitamin C
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Which vitamin is part of rhodopsin?
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Vitamin A
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Why do elderly have a Vitamin K deficiency?
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Decreased gut flora
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What role does Vitamin D play?
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Allows for Ca absorption in the gut
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Which is the most toxic of all the Vitamins?
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Vitamin D
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What are the two types of beriberi, what causes them, and what do they lead to?
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-From deficient B1
-wet: leads to cardiomyopathy -dry: dry skin, disordered thinking, irritability |
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What disease can deficient B6 lead to?
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Microcytic anemia
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What processes require B12?
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Methionine synthesis, DNA synthesis, and odd carbon FA degradation
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A deficiency in which vitamin causes pellagra?
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B3 (niacin)-->dermatitis, diarrhea, dementia (death)
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Riboflavin is a component of what substrates?
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FAD, FMN
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Which are the non glucogenic amino acids?
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leucine and lysine
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How many ATPs are made per glucose in glycolysis?
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2 net ATPs
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What is the ATP total for metabolism of 1 glucose?
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38 ATPs
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What enzyme converts pyruvate to acetyl coA for use in the Krebs cycle?
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pyruvate dehydrogenase
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What cells secrete insulin?
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Pancreatic Beta-islet cells
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What cells secrete glucagon?
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Pancreatic alpha-cells
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Name the purines
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Adenine
Guanine **PUR As Gold: Purines |
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Name the pyrimidines
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Uracil-->RNA
Cytosine-->RNA and DNA Thymine-->DNA **CUT the PY (pie): Pyrimidines |
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Name the base pairs.
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A and T
G and C In RNA A and U |
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When purine bases are degraded, wht is the final product?
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Uric acid
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What is transcription?
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The process of reading a DNA strand to produce an RNA strand (mRNA)
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What is translation?
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the process of reading mRNA to determine the amino acid sequence of a growing protein; occurs at the ribosome
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What polymerase does alpha-amanitin inhibit?
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Polymerase II, which makes RNA to be later transcribed into protein
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What is the function of the 5' cap of RNA?
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facilitated initiation of translation and helps to stabilize mRNA
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What is the function of the Poly-A tail of RNA?
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helps RNA exit from nucleus and helps stabilize mRNA
-added to the 3' end |
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What is the function of snRNPs?
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Bind to the ends of introns, bring together neighboring exons into correct alignment for splicing.
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In which direction is a new strand of DNA produced?
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5'-3' direction
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What does polymerase gamma do?
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Replicates and repairs the DNA
Has 3' to 5' exonuclease proofreading ability |
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Which bacterial polymerase has 5' to 3' exonuclease activity?
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Polymerase I
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Describe exergonic reactions.
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Reactions in which there is a net loss of energy, thus the delta G is negative
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A shift in the oxygen saturation curve in which direction is associated with a decreased affinity for oxygen?
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to the right
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What metabolic effects are associated in a person diagnosed with diabetes Type I?
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Increased gluconeogenesis
Increased glycogenolysis Increased lipolysis increased serum free fatty acids --> all this occurs because of lack of insulin to inhibit these things |
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What molecule would be most decreased in the body in a person following a fat free diet?
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Prostaglandin-->because formed from arachidonic acid, which is formed from phospholipids that contain a particular fatty acid known as linoleic acid. Linoleic acid is an essential fatty acid, meaning that it can only be derived from one's diet.
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What is the DIRECT precursor to melanin, dopamine, NE, epinephrine, and thyroid hormones?
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Tyrosine
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What is the mneumonic to remember the blotting techniques?
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Southern DNA
Northern RNA Western Protein SNoW DRoP |
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What drug does penicillamine bind?
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Copper
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Where is most Vitamin B12 stored?
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Liver
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What type of cells can be seen in Krabbe disease?
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Globoid cell accumulation in the brain
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Where are Apolipoprotein B48 found?
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chylomicrons
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Describe noncompetitive inhibitors.
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-bind reversibly
-bind site other than active site -don't compete with substrate for binding to the enzyme -Km remains unchanged -effect on enzyme is independent of substrate concentration |
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What is the defect in sickle cell anemia?
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Glutamic acid residue in the beta chain of hemoglobin is replaced by valine
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What enzyme is responsible for the production of leukotrienes?
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lipooxygenase
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What are the products of pyruvate dehydrogenase complex?
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NADH
acetyl CoA |
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Which tissues are gluconeogenic?
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liver, kidney, small intestines
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What molecule is deficient secondary to G6PD deficiency?
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Glutathione
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What is the enzyme deficiency in galactosuria (galactosemia)?
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galactose-1-PO4 uridylyl transferase
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