Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome.

ABSTRACT: Brugada syndrome (BrS) is an inherited cardiac disorder characterized by electrical disturbances. Pathogenic variants in the SCN5A gene are implicated in 25-30% of probands. Although loss-of-function mutations in SCN5A gene drive clinical severity, incomplete penetrance and interindividual susceptibility suggest additional contributing factors. Emerging evidence highlights the role of microRNAs (miRNAs), short non-coding nucleotides involved in post-transcriptional gene regulation, in cardiovascular pathophysiology. We sought to identify differences in circulating miRNAs in SCN5A gene mutation carriers according to their phenotype. 27 patients from 10 families with SCN5A gene mutations were included. Among them, 15 had a confirmed diagnosis of BrS by spontaneous or induced electrocardiogra

SUBMITTER: Moscoso I 

PROVIDER: S-EPMC12546910 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature