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How FH affects LDL receptors. Does FH affect the function of LDL receptors (mutates them) or the number of LDL receptors at the plasma membrane at any given point? Or both?

User Leopik
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Final answer:

FH affects the function and number of LDL receptors, leading to increased cholesterol levels and the risk of cardiovascular diseases.

Step-by-step explanation:

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically elevated levels of low-density lipoprotein (LDL) cholesterol. LDL cholesterol is often referred to as "bad" cholesterol because high levels can lead to the accumulation of cholesterol in the walls of blood vessels, increasing the risk of atherosclerosis and cardiovascular diseases.

Familial Hypercholesterolemia (FH) affects the LDL receptors on the plasma membrane by rendering them defective or entirely missing. Consequently, this genetic abnormality leads to a significant increase in cholesterol levels in the blood due to the inability of cells to clear LDL cholesterol through receptor-mediated endocytosis. This can result in life-threatening cholesterol levels, contributing to the development of atherosclerosis and cardiovascular diseases.

User Kelsea
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