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