SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.

ABSTRACT:

Background

Patients with cardiomyopathy of Duchenne Muscular Dystrophy (DMD) are at risk of developing life-threatening arrhythmias, but the mechanisms are unknown. We aimed to determine the role of ion channels controlling cardiac excitability in the mechanisms of arrhythmias in DMD patients.

Methods

To test whether dystrophin mutations lead to defective cardiac Na_V1.5-Kir2.1 channelosomes and arrhythmias, we generated iPSC-CMs from two hemizygous DMD males, a heterozygous female, and two unrelated control males. We conducted studies including confocal microscopy, protein expression analysis, patch-clamping, non-viral piggy-bac gene expression, optical mapping and contractility assays.

Results

Two patients had abnormal ECGs with frequent runs of ventricula

SUBMITTER: Jimenez-Vazquez EN 

PROVIDER: S-EPMC9239678 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature