A role for Scn5a missplicing in cardiac arrhythmias in myotonic dystrophy

A team of researchers at Baylor College of Medicine reveals new insights into what can be causing life-threatening cardiac-related events in myotonic dystrophy type 1(DM1). Published in the Journal of the American Heart Association, the study shows that reproducing in mice the missplicing of gene Scn5a observed in patients with the condition recapitulates defects in cardiac function present in the patients. The findings highlight a non-mutational mechanism that is relevant to DM1 and possibly other types of arrhythmias and open the possibility for novel interventions.