Vnitr Lek 2016, 62(11):877-881

Molecular genetics of hypercholesterolemia

Lucie Schwarzová
III. interní klinika 1. LF UK a VFN v Praze

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.

Keywords: APOB; familial hypercholesterolemia; LDLR; LDLRAP1; PCSK9

Received: November 4, 2016; Accepted: November 15, 2016; Published: November 1, 2016  Show citation

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Schwarzová L. Molecular genetics of hypercholesterolemia. Vnitr Lek. 2016;62(11):877-881.
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