What is the gene product associated with Familial Hypercholesterolemia?

• A. LDL receptor
• B. Pax6 transcription factor
• C. Fibrillin-1
• D. Huntingtin

Answer: (A)

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by extremely high cholesterol levels, particularly low-density lipoprotein (LDL) cholesterol, leading to an increased risk of cardiovascular disease. The underlying cause of FH is often a mutation in the gene that encodes the LDL receptor.

The LDL receptor is crucial for clearing LDL cholesterol from the bloodstream by mediating its uptake into liver cells. In individuals with Familial Hypercholesterolemia, mutations in the gene encoding the LDL receptor lead to reduced receptor function or the absence of the receptor, resulting in decreased uptake of LDL and thereby causing elevated levels of cholesterol in the blood. This directly links the gene product, which is the LDL receptor, to the genetic pathology of FH.

Understanding this connection is essential for recognizing how genetic mutations can lead to specific clinical outcomes, emphasizing the role of the LDL receptor in maintaining lipid homeostasis in the body.