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Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

2018; Elsevier BV; Volume: 3; Issue: 6 Linguagem: Inglês

10.1016/j.jacbts.2018.08.008

2452-302X

Kai‐Chun Yang, Astrid Breitbart, Willem J. de Lange, Peter Hofsteen, Akiko Futakuchi-Tsuchida, Joy Xu, Cody M. Schopf, Maria V. Razumova, Alex Jiao, Robert J. Boucek, Lil Pabon, Hans Reinecke, Deok‐Ho Kim, J. Carter Ralphe, Michael Regnier, Charles E. Murry,

Pluripotent Stem Cells Research

A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell–derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.