Journal
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
Volume 50, Issue 4, Pages 613-620Publisher
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.yjmcc.2011.01.014
Keywords
Cardiomyopathy; Hypertrophy; Mutations; Myosin-binding protein C; Sarcomere; Ubiquitin-proteasome system
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Funding
- Deutsche Forschungsgemeinschaft [FOR-604/1-2, CA 618/1-2]
- Fritz Thyssen Stiftung [Az. 10.09.1.139]
- European Union [Health-F2-2009-241577]
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Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay, ubiquitin-proteasome system, and autophagy, which contribute to minimize the production of potential poison mutant proteins. This review discusses the structural and regulatory functions of cMyBP-C, the molecular mechanisms involved in cMyBP-C-related HCM, as well as potential causative therapies for HCM. (C) 2011 Elsevier Ltd. All rights reserved.
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