The Major Molecular Causes of Familial Hypercholesterolemia

Abstract

Familial Hypercholesterolemia (FH) is a common dominant disorder of cholesterol metabolism characterized by elevated serum cholesterol level which results in increasing risk of many diseases. The major cause of FH is the loss-of-function in Low Density Lipoprotein Receptor (LDLR), Apolipoprotein B-100 (ApoB-100), Low Density Lipoprotein Receptor Adapter Protein (LDLRAP1), and Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) gene that revealed to the defects in the uptake and degradation of Low Density Lipoprotein (LDL) via the LDLR pathway. In this review, we have highlighted the molecular disorder in LDLR, ApoB-100, LDLRAP1 and PCSK gene, leading to the possible accession on early diagnosis, screening of FH based on the clinical characteristics, family history, evaluated LDL-Cholesterol levels and recently genetic testing aided, hence molecular based therapy will be applied or recommended to FH patients.