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MYH7 in cardiomyopathy and skeletal muscle myopathy

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Abstract

Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain (myosin-7), has attracted considerable interest as a result of its fundamental functions in cardiac and skeletal muscle contraction and numerous nucleotide variations of MYH7 are closely related to cardiomyopathy and skeletal muscle myopathy. These disorders display significantly inter- and intra-familial variability, sometimes developing complex phenotypes, including both cardiomyopathy and skeletal myopathy. Here, we review the current understanding on MYH7 with the aim to better clarify how mutations in MYH7 affect the structure and physiologic function of sarcomere, thus resulting in cardiomyopathy and skeletal muscle myopathy. Importantly, the latest advances on diagnosis, research models in vivo and in vitro and therapy for precise clinical application have made great progress and have epoch-making significance. All the great advance is discussed here.

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Funding

This work was supported by Shandong key research and development plan (Grant No. 2019GSF108186 and 2014GSF118066) and Science Foundation of Qilu Hospital of Shandong University (Grant No. 2017QLQN33).

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  1. Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, 250012, China

    Yuan Gao, Lu Peng & Cuifen Zhao

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  1. Yuan Gao
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CZ conceptualized the manuscript. YG and LP wrote the manuscript, and designed and prepared the figures and tables. CZ edited the final version of the manuscript. All authors approved the final manuscript.

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Gao, Y., Peng, L. & Zhao, C. MYH7 in cardiomyopathy and skeletal muscle myopathy. Mol Cell Biochem 479, 393–417 (2024). https://doi.org/10.1007/s11010-023-04735-x

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