摘要
Low density lipoprotein (LDL) receptor is a cell surface glycoprotein that regulates plasma cholesterol by mediating endocytosis of LDL and supplies cells with cholesterol. LDL receptor was first identified in 1973 by Goldstein and Brown, who won the Nobel Prize in 1985. Mutations in the LDL receptor gene cause familial hyper-cholesterolemia (FH), a common disease that affects about 1 in 500 people in most populations. Individuals heterozygous for LDL receptor mutation in one allele express half the normal number of functional receptors on their cell surface. This produces a two-fold elevation in plasma LDL-cholesterol concentration. The excess plasma LDL-cholesterol deposits in tendons and arterial walls, forming tendon xanthomas and atherosclerotic plaques. The rare FH homozygotes (about 1 per million people) have mutations in both LDL receptor genes, express few or no functional LDL receptors on their cell surfaces. Their plasma LDL-cholesterol level rises dramatically and displays a pathognomonic sk
