Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

ABSTRACT:

Background

Sudden infant death syndrome (SIDS) is a leading cause of death during the first 6 months after birth. About 5% to 10% of SIDS may stem from cardiac channelopathies such as long-QT syndrome. We recently implicated mutations in alpha1-syntrophin (SNTA1) as a novel cause of long-QT syndrome, whereby mutant SNTA1 released inhibition of associated neuronal nitric oxide synthase by the plasma membrane Ca-ATPase PMCA4b, causing increased peak and late sodium current (I(Na)) via S-nitrosylation of the cardiac sodium channel. This study determined the prevalence and functional properties of SIDS-associated SNTA1 mutations.

Methods and results

Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing of SNTA1's open reading fram

SUBMITTER: Cheng J 

PROVIDER: S-EPMC2810855 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature