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MINI REVIEW article
Front. Cardiovasc. Med.
Sec. General Cardiovascular Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1550649
cMyBP-C in Hypertrophic Cardiomyopathy: Gene Therapy and Small-Molecule Innovations
Provisionally accepted- 1 Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States
- 2 Department of Cellular and Molecular Medicine, College of Medicine, University of Arizona, Tuczon, Arizona, United States
Hypertrophic cardiomyopathy (HCM) is a genetic disorder in the heart caused by variants in sarcomeric proteins that disrupt myocardial function, leading to hypercontractility, hypertrophy, and fibrosis. Optimal cardiac function relies on the precise coordination of thin and thick filament proteins that control the timing, magnitude of cellular force generation and relaxation, and in vivo systolic and diastolic function. Sarcomeric proteins, such as cardiac myosin binding protein C (cMyBP-C) play a crucial role in myocardial contractile function by modulating actomyosin interactions. Genetic variants in cMyBP-C are a frequent cause of HCM, highlighting its importance in cardiac health. This review explores the molecular mechanisms underpinning HCM and the rapidly advancing field of HCM translational research, including gene therapy and small-molecule interventions targeting sarcomere function. We will highlight novel approaches, including gene therapy using recombinant AAV vectors and small-molecule drugs targeting sarcomere function.
Keywords: Hypertrophic Cardiomyopathy, cMyBP-C, Myosin binding protein C, Gene Therapy, AAV9 Gene Transfer, small molecule, High throughput screening, Small molecule therapy
Received: 23 Dec 2024; Accepted: 13 Feb 2025.
Copyright: © 2025 Wood, Seffrood, Colson and Stelzer. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Patrick T. Wood, Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106-4970, Ohio, United States
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.