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30 Cards in this Set
- Front
- Back
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FH-common or rare?
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common
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moderate or sever?
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sever
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FH is the most...
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common AD, SGD, c/s disorder known in humans
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what is the frequency?
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1/500 WW, 1/100 S. africa
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accounts for how many heart attacks in US?
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5%
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What causes most deaths in US?
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cardio vascular disease (30%)
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What is atheroslcerosis?
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plaque spots on arterial walls
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what is arteriosclerosis?
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hardening of the artery
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What were the first major symptoms of FH?
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increased plasma cholesterol, xanthomas, and CVD
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type IIA SGD or MFD?
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SGD
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AD or AR?
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AD
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how big is the protien?
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839 AA's
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About half of the homozygots are actually..
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compound heterozygotes
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Where do we got our cholesterol?
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1/3 food 2/3 synthesis
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What is the defect in IIA?
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cholesterol receptors deficient or missing.
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What are the functions of cholesterol?
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structural unit of all membranes, substrate for synthesis of bile salts and all steriods
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What is class 1?
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no receptors, 1/2 of mutations
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what is class 2?
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no glycolyzation, LDLR pp degraded, no contact with cell membrane, slow transport from ER to Golgi
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what is class 3?
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No binding to chol-LDL vesicles (domain 5(
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what is class 4?
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no internalization (domain 4 or 5), no endocytosis
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Why is it called the silent killer?
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no symptoms till heart attack, affectes usually normal except for high LDL and plasma cholesterol levels
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What are Alu repeats?
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3% of genome, causes large deletions.
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What does Probucol do?
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antioxidant, causes excretion of bile salts, reduces blood cholesterol by 15-30 percent
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What does Compactin do?
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lowers cholesterol synthesis
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What does Cholestyramine do?
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inhibits cellular cholesterol synthesis w/ bad side effects
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what is the genotype of 1/20 survivors of myocardial infaction?
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Aa+
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A lot of the appearent homozygotes are actually?
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compound heterozygotes
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What is the optimal range for daily VLDL, HDL and plasma cholesterol?
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140-220
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How many mg/dl of LDL do normal vs homozygous affecteds have at birth?
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30 normal
500-700 AA |
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How many mg/dl of LDL do normal vs homozygous affecteds have in adulthood?
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normal 50-80
AA greater than 450 |
