{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jimenez-Vazquez EN"],"funding":["National Institute of Arthritis and Musculoskeletal and Skin Diseases","Dr. Bernard Lublin","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","La Caixa Banking Foundation","Horizon 2020 - Research and Innovation Framework Programme","Rappaport Foundation","American Heart Association","Instituto de Salud Carlos III","US-Israel Binational Science Foundation","Fundación La Marató 2020","Niedersachsen Foundation","Duchenne Parent Project","Israel Science Foundation","NIAMS NIH HHS"],"pagination":["e76576"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9239678"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Methods</h4>To test whether dystrophin mutations lead to defective cardiac Na<sub>V</sub>1.5-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.<h4>Results</h4>Two patients had abnormal ECGs with frequent runs of ventricula"],"journal":["eLife"],"pubmed_title":["<i>SNTA1</i> gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients."],"pmcid":["PMC9239678"],"funding_grant_id":["842/19","01012020RI","2013032","ZN3452","R01 AR068428","736/C/2020","LCF/PR/HR19/52160013","19POST34380706s","Donation","2029771","R01 HL122352","PI20/01220","2019039","AR068428","GA-965286"],"pubmed_authors":["Cruz FM","Guerrero-Serna G","Herron TJ","Jalife J","Macias A","Monteiro da Rocha A","Jimenez-Vazquez EN","Vera-Pedrosa ML","Gutierrez LK","Cuttitta AJ","Ponce-Balbuena D","Michele DE","Arad M","Binah O"],"additional_accession":[]},"is_claimable":false,"name":"<i>SNTA1</i> gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.","description":"<h4>Background</h4>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.<h4>Methods</h4>To test whether dystrophin mutations lead to defective cardiac Na<sub>V</sub>1.5-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.<h4>Results</h4>Two patients had abnormal ECGs with frequent runs of ventricula","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2026-05-27T19:18:06.444Z","creation":"2022-07-10T15:43:03.907Z"},"accession":"S-EPMC9239678","cross_references":{"pubmed":["35762211"],"doi":["10.7554/eLife.76576"]}}