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What do transport defective mutations in the LDL receptor gene lead to?

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder caused by mutations in the low density lipoprotein receptor (LDLR) gene. FH is characterized by elevated plasma LDL cholesterol, premature atherosclerosis, and a high risk of premature myocardial infarction.

How genetic deficiency of cell receptor for LDL can lead to atherosclerosis?

Deficiency of LDL receptors increases plasma cholesterol and accelerates atherosclerosis. Humans with homozygous FH develop severe atheroscl disease within two decades of life if untreated. Deficiency of LDL receptors in rabbits also leads to pronounced hypercholesterolaemia and accelerated atherosclerosis.

What does the LDL receptor do?

The low-density lipoprotein receptor (LDLR) is responsible for uptake of cholesterol-carrying lipoprotein particles into cells. The receptor binds lipoprotein particles at the cell surface and releases them in the low-pH environment of the endosome.

What is the function of the low-density lipoprotein receptor?

The low-density lipoprotein receptor (LDLR) is responsible for uptake of cholesterol-carrying lipoprotein particles into cells. The receptor binds lipoprotein particles at the cell surface and releases them in the low-pH environment of the endosome.

What is the name of the genetic disease caused by a defect in the LDL receptor?

Familial hypercholesterolemia (FH) can be caused by inherited changes (mutations) in the LDLR, APOB, and PCSK9 genes, which affect how your body regulates and removes cholesterol from your blood.

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What happens to LDL receptors in familial hypercholesterolemia?

Familial hypercholesterolemia is caused by a reduction or defect in the LDL receptor, which is also called the apo B/E receptor because it binds both apolipoprotein B and apolipoprotein E. The LDL receptor is responsible for the uptake of LDL-C into the liver, which metabolizes approximately 70% of circulating LDL-C.

What are the receptors for LDL?

The LDL receptor is found in the liver and most other tissues. It recognizes Apo B 100 and Apo E, mediating the uptake of LDL, chylomicron remnants, and IDL through endocytosis. After internalization, the lipoprotein particle is degraded in lysosomes, and cholesterol is released.

What is the LDL receptor mutation?

Mutations in the LDLR gene cause a form of high cholesterol called familial hypercholesterolemia. More than 2,000 mutations have been identified in this gene. Some of these genetic changes reduce the number of low-density lipoprotein receptors produced within cells.

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