The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.

ABSTRACT:

Background

A loss of function of the L-type calcium channel, Cav1.2, results in a cardiac specific disease known as Brugada syndrome. Although many Brugada syndrome channelopathies reduce channel function, one point mutation in the N-terminus of Cav1.2 (A39V) has been shown to elicit disease a phenotype because of a loss of surface trafficking of the channel. This lack of cell membrane expression could not be rescued by the trafficking chaperone Cavβ.

Findings

We report that despite the striking loss of trafficking described previously in the cardiac Cav1.2 channel, the A39V mutation while in the background of the brain isoform traffics and functions normally. We detected no differences in biophysical properties between wild type Cav1.2 and A39V-Cav1.2 in the presence of eit

SUBMITTER: Simms BA 

PROVIDER: S-EPMC3307476 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature