Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

ABSTRACT:

Background

Central Core Disease (CCD) is a congenital myopathy often resulting from a mutation in RYR1 gene. Mutations in RyR1 can increase or decrease channel activity, or induce a reduction in the amount of protein. The consequences of a single mutation are sometimes multiple and the analysis of the functional effects is complex.

Objective

The consequences of the p.Y4864H mutation identified in a CCD patient have been studied regarding both RyR1 function and amount.

Methods

The amount of RyR1 in human and mouse muscles was evaluated using qRT-PCR and quantitative Western blot, and calcium release was studied using calcium imaging on primary cultures. The results were compared between human and mouse.

Results

The p.Y4864H mutation induced an alteration of calc

SUBMITTER: Cacheux M 

PROVIDER: S-EPMC5240544 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature