Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.

ABSTRACT: Background: Atrial Fibrillation (AF) is the most prevalent sustained cardiac arrhythmia, responsible for considerable morbidity and mortality. The heterogenic and complex pathogenesis of AF remains poorly understood, which contributes to the current limitation in effective treatments. We aimed to identify rare genetic variants associated with AF in patients with familial AF. Methods and results: We performed whole exome sequencing in a large family with familial AF and identified a rare variant in the gene CACNA1A c.5053G > A which co-segregated with AF. The gene encodes for the protein variants Ca_V2.1-V1686M, and is important in neuronal function. Functional characterization of the CACNA1A, using patch-clamp recordings on transiently transfected mammalian c

SUBMITTER: Vad OB 

PROVIDER: S-EPMC8832975 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature