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University of Cincinnati

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Exp. Mol. Med., 2023 Mar;55(3):502-509 | https://doi.org/10.1038/s12276-023-00953-x Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs

Taejeong Song¹, Maicon Landim-Vieira², Mustafa Ozdemir¹, Caroline Gott¹, Onur Kanisicak³, Jose Renato Pinto² and Sakthivel Sadayappan¹

¹Division of Cardiovascular Health and Disease, Department of Internal Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.
²Department of Biomedical Sciences, Florida State University College of Medicine, Tallahassee, FL 32306, USA.
³Department of Pathology and Laboratory Medicine, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA

Corresponding authors : Correspondence to Taejeong Song or Sakthivel Sadayappan.

Abstract

Skeletal muscle, a highly complex muscle type in the eukaryotic system, is characterized by different muscle subtypes and functions associated with specific myosin isoforms. As a result, skeletal muscle is the target of numerous diseases, including distal arthrogryposes (DAs). Clinically, DAs are a distinct disorder characterized by variation in the presence of contractures in two or more distal limb joints without neurological issues. DAs are inherited, and up to 40% of patients with this condition have mutations in genes that encode sarcomeric protein, including myosin heavy chains, troponins, and tropomyosin, as well as myosin binding protein-C (MYBPC). Our research group and others are actively studying the specific role of MYBPC in skeletal muscles. The MYBPC family of proteins plays a critical role in the contraction of striated muscles. More specifically, three paralogs of the MYBPC gene exist, and these are named after their predominant expression in slow-skeletal, fast-skeletal, and cardiac muscle as sMyBP-C, fMyBP-C, and cMyBP-C, respectively, and encoded by the MYBPC1, MYBPC2, and MYBPC3 genes, respectively. Although the physiology of various types of skeletal muscle diseases is well defined, the molecular mechanism underlying the pathological regulation of DAs remains to be elucidated. In this review article, we aim to highlight recent discoveries involving the role of skeletal muscle-specific sMyBP-C and fMyBP-C as well as their expression profile, localization in the sarcomere, and potential role(s) in regulating muscle contractility. Thus, this review provides an overall summary of MYBPC skeletal paralogs, their potential roles in skeletal muscle function, and future research directions.

논문정보

형식Review Paper
게재일2023년 03월 (BRIC 등록일 2023-05-17)
연구진국외 연구진
분야 생명과학 > 생리학

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