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Patients with Duchenne Muscular Dystrophy cardiomyopathy are at risk of obtaining life-threatening arrhythmias, but the mechanisms are unclear. In the development of arrhythmias in DMD patients, we investigated the role of cardiac ion channels controlling cardiac excitability. Two patients had abnormal ECGs with frequent runs of ventricular tachycardia. Protein levels were reduced in hemizygous DMD iPSC-CMs but not in heterozygous iPSC-CMs. In hemizygous iPSC-CMs restored channelosome function, I Na and I K1 densities, and action potential profile were found. We have the first demonstration that iPSC-CMs reprogrammed from skin fibroblasts of DMD patients with cardiomyopathy have a Na V1. 5-Kir2. 1 channelosome dysfunction, leading to reduced cardiac excitability and conduction.
Source link: https://doi.org/10.1101/2022.01.25.477696
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