Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.

ABSTRACT:

Background

Adenosine triphosphate (ATP)-sensitive potassium cardiac channels consist of inward-rectifying channel subunits Kir6.1 or Kir6.2 (encoded by KCNJ8 or KCNJ11) and the sulfonylurea receptor subunits SUR2A (encoded by ABCC9).

Objective

To examine the association of mutations in KCNJ8 with Brugada syndrome (BrS) and early repolarization syndrome (ERS) and to elucidate the mechanism underlying the gain of function of ATP-sensitive potassium channel current.

Methods

Direct sequencing of KCNJ8 and other candidate genes was performed on 204 BrS and ERS probands and family members. Whole-cell and inside-out patch-clamp methods were used to study mutated channels expressed in TSA201 cells.

Results

The same missense mutation, p.Ser422Leu (c.1265C>T) in KCNJ8, w

SUBMITTER: Barajas-Martinez H 

PROVIDER: S-EPMC3288170 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature