LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in low-density lipoprotein receptor (LDLR), an FH-related gene, is a pathogenic variant in FH by in silico analysis and functional experiments.

Methods

The proband and his family were evaluated using the diagnostic criteria of the Dutch Lipid Clinic Network. Whole-exome and Sanger sequencing were used to explore and validate FH-related variants. In silico analyses were used to evaluate the pathogenicity of the candidate variant and its impact on protein stability. Molecular and biochemical methods were performed to examine the effects of the LDLR c.415G > A variant in vitro.

Results

Four of six part

SUBMITTER: Wang K 

PROVIDER: S-EPMC10956282 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature