Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells
oleh: Kai-Chun Yang, MD, Astrid Breitbart, MD, Willem J. De Lange, PhD, Peter Hofsteen, PhD, Akiko Futakuchi-Tsuchida, BS, Joy Xu, MSE, Cody Schopf, BS, Maria V. Razumova, PhD, Alex Jiao, PhD, Robert Boucek, MD, Lil Pabon, PhD, Hans Reinecke, PhD, Deok-Ho Kim, PhD, J. Carter Ralphe, MD, Michael Regnier, PhD, Charles E. Murry, MD, PhD
| Format: | Article |
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| Diterbitkan: | Elsevier 2018-12-01 |
Deskripsi
Summary: 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. Key Words: disease-modeling, engineered heart tissue, genetic cardiomyopathy, induced pluripotent stem cells