The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy.
Familial hypercholesterolemia results from one of several genetic defects in a cell surface receptor that normally controls the degradation of low density lipoprotein. The clinical and genetic features and the pathophysiology of these defects are discussed. Knowledge of the regulation of LDL receptors in the liver can be exploited in the design of a physiologically rooted therapy for familial hypercholesterolemia.
D002478:Cells, Cultured; D002784:Cholesterol / Q000096:biosynthesis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D008077:Lipoproteins, LDL / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D009154:Mutation; D011956:Receptors, Cell Surface / Q000378:metabolism*; D011973:Receptors, LDL
D008077:Lipoproteins, LDL; D011956:Receptors, Cell Surface; D011973:Receptors, LDL; D002784:Cholesterol