The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.

ABSTRACT:

Background

Brugada Syndrome (BrS) is an inherited arrhythmia syndrome in which mutations in the cardiac sodium channel SCN5A (Na_V1.5) account for approximately 20% of cases. Mutations in sodium channel-modifying genes may account for additional BrS cases, though BrS may be polygenic given common SNPs associated with BrS have been identified. Recent analysis, however, has suggested that SCN5A should be regarded as the sole monogenic cause of BrS.

Objective

We sought to re-assess the genetic underpinnings of BrS in a large mutligenerational family with a putative mutation in GPD1L that affects surface membrane expression of Na_V1.5 in vitro.

Methods

Fine linkage mapping was performed in the family using the Illumina Globa

SUBMITTER: Greiner AM 

PROVIDER: S-EPMC11221213 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature