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Research Article Free access | 10.1172/JCI116530

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

G Cuda, L Fananapazir, W S Zhu, J R Sellers, and N D Epstein

Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.

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Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.

Find articles by Fananapazir, L. in: PubMed | Google Scholar

Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.

Find articles by Zhu, W. in: PubMed | Google Scholar

Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.

Find articles by Sellers, J. in: PubMed | Google Scholar

Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.

Find articles by Epstein, N. in: PubMed | Google Scholar

Published June 1, 1993 - More info

Published in Volume 91, Issue 6 on June 1, 1993
J Clin Invest. 1993;91(6):2861–2865. https://doi.org/10.1172/JCI116530.
© 1993 The American Society for Clinical Investigation
Published June 1, 1993 - Version history
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Abstract

Hypertrophic cardiomyopathy is an important inherited disease. The phenotype has been linked, in some kindreds, to the beta-myosin heavy chain (beta-MHC) gene. Missense and silent mutations in the beta-MHC gene were used as markers to demonstrate the expression of mutant and normal cardiac beta-MHC gene message in skeletal muscle of hypertrophic cardiomyopathy patients. Mutant beta-myosin, also shown to be present in skeletal muscle by Western blot analysis, translocated actin filaments slower than normal controls in an in vitro motility assay. Thus, single amino acid changes in beta-myosin result in abnormal actomyosin interactions, confirming the primary role of missense mutations in beta-MHC gene in the etiology of hypertrophic cardiomyopathy.

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