What is familial hypercholesterolemia? Discuss its molecular basis, sy

Question

What is familial hypercholesterolemia? Discuss its molecular basis, symptoms and treatments

10 Feb 2025

Answer :

Word Count : 737

Familial hypercholesterolemia (FH) is a genetic disorder characterized by abnormally high levels of cholesterol in the blood, particularly low-density lipoprotein cholesterol (LDL-C), leading to an increased risk of cardiovascular diseases. FH is inherited in an autosomal dominant pattern, meaning that only one copy of the defective gene, inherited from either parent, is sufficient to manifest the disease. Individuals with FH may develop early-onset atherosclerosis, heart attacks, and strokes due to the accumulation of cholesterol in the blood vessels.

### Molecular Basis of Familial Hypercholesterolemia

The molecular basis of FH primarily involves mutations in the *LDLR* (low-density lipoprotein receptor) gene, which is responsible for the synthesis of LDL receptors. These receptors are located on the surface of cells and are responsible for binding LDL particles, which carry cholesterol, and facilitating their removal from the bloodstream. In FH, mutations in the *LDLR* gene result in either a defective or absent LDL receptor, leading to an impaired ability to clear LDL cholesterol from the blood.

In addition to mutations in the *LDLR* gene, FH can also be caused by mutations in the *APOB* gene, which encodes apolipoprotein ____ _____ __________ ___ _________ ________ _________ _________ ____ _____.
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