Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.

ABSTRACT:

Aim

To study the effect of anti-copper treatment for survival of hepatic cells expressing different ATP7B mutations in cell culture.

Methods

The most common Wilson disease (WD) mutations p.H1069Q, p.R778L and p.C271*, found in the ATP7B gene encoding a liver copper transporter, were studied. The mutations represent major genotypes of the United States and Europe, China, and India, respectively. A human hepatoma cell line previously established to carry a knockout of ATP7B was used to stably express WD mutants. mRNA and protein expression of mutant ATP7B, survival of cells, apoptosis, and protein trafficking were determined.

Results

Low temperature increased ATP7B protein expression in several mutants. Intracellular ATP7B localization was significantly impaired in the

SUBMITTER: Chandhok G 

PROVIDER: S-EPMC4837429 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature