title: [Molecular genetics of hypercholesterolemia].
abstract: The review focuses on the molecular background of an inborn error of lipid metabolism -familial hypercholesterolemia. FH describes a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. Most cases are due to the mutations decreasing and/or destroying the function of the LDL receptor (85-90 % of cases), smaller portion of cases is caused by defects in the gene encoding the ligand for LDL receptor - apolipoprotein B-100 (5-10 %). Less than 5 % of cases has gain-of-function station of the PCSK9 gene that increases the rate of degradation of the LDL receptor molecules. Autosomal recessive form of the disease, caused by the mutations in LDLR adaptor protein 1 gene, is extremely rare.Key words: APOB - familial hypercholesterolemia - LDLR - LDLRAP1 - PCSK9.
authors.forename: Lucie
authors.initials: L
authors.lastname: Schwarzová
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D053299:Apolipoprotein B-100 / Q000235:genetics*; D003327:Coronary Disease; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D009154:Mutation; D000071449:Proprotein Convertase 9 / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: C569471:APOB protein, human; D048868:Adaptor Proteins, Signal Transducing; D053299:Apolipoprotein B-100; C573412:LDLR protein, human; C469745:LDLRAP1 protein, human; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9