Functional Analysis of Apolipoprotein B (ApoB) and Low-Density Lipoprotein Receptor (LDLR) Mutations in Omani Patients with Familial Hypercholesterolemia Patients

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C) in the blood, and if not diagnosed and treated early in life, it can lead to premature cardiovascular diseases (CVD). FH can be diagnosed using clinical criteria but screening for pathogenic mutations in LDL receptor (LDLR), Apolipoprotein B (APOB), and Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) can confirm the diagnosis. There are still some detected variants in the above genes with unknown pathogenicity which can make the diagnosis of FH difficult. Therefore, the aim of this study, to conduct several functional assays to assess the impact of genetic variants on the expression, structure, and function of the LDLR protein.