Pathophysiology and therapeutics of arrhythmogenic right ventricular cardiomyopathy 5

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited cardiac disease characterized by fibro-fatty replacement of the myocardium that causes heart failure and sudden cardiac death. The most aggressive subtype of ARVC is ARVC type 5 (ARVC5), caused by a p.S358L mutation in TMEM43. The function and localization of TMEM43 and the mechanism by which the p.S358L mutation causes the disease, are unknown. RNA was isolated from the left ventricle of hearts from WT mice, mice overexpressing the human form of TMEM43 (TMEM43wt) and mice expressing the human p.S358L mutant form of TMEM43 (TMEM43mut) under Myosin Heavy Chain 6 (Myh6) promoter gene. Myh6:hTMEM constructs have been inserted randomly in the genome.