The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.

ABSTRACT:

Background

As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly attributed to disease-causing variants in the low-density lipoprotein receptor (LDLR) gene. The aim of this study was to explore the molecular mechanism of LDLR c.501C>A variant in FH and assess the efficacy of proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitor treatment for FH patients.

Methods

The whole-exome sequencing was performed on two families to identify disease-causing variants, which were verified by Sanger sequencing. The function of LDLR variant was further explored in HEK293 cells by Western Blot and confocal microscopy. Besides, the therapeutic effects of PCSK9 inhibitor treatment for two probands were assessed for 3 months.

Results

All members of the

SUBMITTER: Hu H 

PROVIDER: S-EPMC8436568 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature