Lecture 8: Familial hypercholesterolemia

Question 1

what is class 2 LDL receptor mutation

Answer 1

misfolded receptor protein, impaired formation
gets retained by ER (ER misfolding disease)
affects ~50%

Question 2

what will recruit the LDL receptor into the clathrin coated vesicles

Answer 2

an adaptor protein

Question 3

what is class 4 mutation

Answer 3

mutation in cytoplasmic tail of receptor
means adaptor protein cant bind
LDL receptors cant be internalised

Question 4

what is class 3 mutation

Answer 4

abnormal binding of LDL
so if it binds too tight, then cant be released in cell

Question 5

2 mechanisms of treamtment for FH

Answer 5

inhibit cholesterol synthesis
or
inhibit dietary cholesterol absorption

Question 6

when cholesterol synthesis is inhibited, what does this stimulate

Answer 6

LDL receptor expression
only works in HZ with one wild type gene
means more LDL can be taken in

Question 7

example of medication that inhibits cholesterol synthesis

Answer 7

statins

Question 8

example of medication that inhibits cholesterol from being absorbed in intestine

Answer 8

ezetimibe