What gene mutation is responsible for familial hypercholesterolemia?
A) cholesterol generating gene
B) fatty acid assimilating gene
C) HDL-receptor gene
D) VLDL-receptor gene
E) LDL-receptor gene

Question

What gene mutation is responsible for familial hypercholesterolemia?
A) ​cholesterol generating gene
B) ​fatty acid assimilating gene
C) ​HDL-receptor gene
D) ​VLDL-receptor gene
E) ​LDL-receptor gene

Quizplus · Accepted Answer

Familial hypercholesterolemia (FH) is caused by a mutation in the gene that codes for the LDL receptor. This mutation makes it difficult for the liver to remove LDL cholesterol from the bloodstream, leading to high levels of LDL cholesterol in the blood.

What Gene Mutation Is Responsible for Familial Hypercholesterolemia