Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is an autosomal dominant disease that primarily results from mutations in the low-density lipoprotein receptor (LDLR) gene. We investigated two unrelated Chinese FH patients using gene screening and functional analysis to reveal the pathogenicity and the mechanism by which these mutations cause FH.

Methods

First, the LDLR gene was sequenced in these patients. Then, mutant receptors were transfected into human embryo kidney 293 (HEK-293) cells, and a confocal laser-scanning microscope was used to observe the localization of mutant proteins. Further, the expression and the internalization activity were analyzed by flow cytometry. Finally, LDLR protein expression and stability was detected by western blot.

Results

Two differe

SUBMITTER: Wang H 

PROVIDER: S-EPMC3966815 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature