Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes
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- 作者：Andre Monteiro da Rocha ; DVM PhDa ; b ; Guadalupe Guerrero-Serna ; PhDa ; Adam Helms ; MDa ; Carly Luzoda ; Sergey Mironov ; PhDa ; Mark Russell ; MDc ; José ; Jalife ; MDa ; Sharlene M. Day ; MDa ; Gary D. Smith ; PhDb ; smithgd@umich.edu" class="auth_mail" title="E-mail the corresponding author ; Todd J. Herron ; PhDa ; toddherr@umich.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：Cardiomyopathy ; Hypertrophy ; Stem cells ; Cardiac differentiation ; Optical mapping ; Stem cell derived cardiomyocytes
- 刊名：Journal of Molecular and Cellular Cardiology
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：99
- 期：Complete
- 页码：197-206
- 全文大小：2786 K
文摘
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A human stem-cell derived cardiomyocyte model of HCM is proposed.
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The model recapitulates hallmarks aspects of HCM in vitro.
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Hallmarks include sarcomere disarray, hypertrophy and impaired calcium impulse propagation.
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HCM phenotype was associated to transient haploinsufficiency of cMyBPC during differentiation.
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Gene transfer of full-length MYBPC3 during differentiation prevented HCM phenotype.