Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.

ABSTRACT:

Background

An estimated 10% to 15% of sudden infant death syndrome (SIDS) cases may stem from channelopathy-mediated lethal arrhythmias. Loss of the GJA1-encoded gap junction channel protein connexin43 is known to underlie formation of lethal arrhythmias. GJA1 mutations have been associated with cardiac diseases, including atrial fibrillation. Therefore, GJA1 is a plausible candidate gene for premature sudden death.

Methods and results

GJA1 open reading frame mutational analysis was performed with polymerase chain reaction, denaturing high-performance liquid chromatography, and direct DNA sequencing on DNA from 292 SIDS cases. Immunofluorescence and dual whole-cell patch-clamp studies were performed to determine the functionality of mutant gap junctions. Immunostaining for g

SUBMITTER: Van Norstrand DW 

PROVIDER: S-EPMC3332541 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature