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Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure–function relationships

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Abstract

Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM). In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM.

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Acknowledgments

This work was supported by the seventh framework program of the European Union (“BIG-HEART,” grant agreement 241577) and the Netherlands organization for scientific research (NWO; VIDI grant 917.11.344).

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Authors and Affiliations

  1. Department of Physiology, Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center, van der Boechorststraat 7, 1081, BT, Amsterdam, The Netherlands

    Vasco Sequeira, E. Rosalie Witjas-Paalberends & Jolanda van der Velden

  2. Cell and Molecular Physiology, Loyola University Chicago, Maywood, IL, USA

    Diederik W. D. Kuster

  3. ICIN – Netherlands Heart Institute, Utrecht, The Netherlands

    Jolanda van der Velden

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  1. Vasco Sequeira
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  2. E. Rosalie Witjas-Paalberends
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  3. Diederik W. D. Kuster
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Correspondence to Jolanda van der Velden.

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Sequeira, V., Witjas-Paalberends, E.R., Kuster, D.W.D. et al. Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure–function relationships. Pflugers Arch - Eur J Physiol 466, 201–206 (2014). https://doi.org/10.1007/s00424-013-1400-3

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