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Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5
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cMyBP-C in hypertrophic cardiomyopathy: gene therapy and small-molecule innovations

Patrick T Wood1, Morgan M Seffrood2, Brett A Colson2

  • 1Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH, United States.

Frontiers in Cardiovascular Medicine
|March 26, 2025
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a genetic heart disorder caused by sarcomeric protein variants. This review covers molecular mechanisms and emerging gene therapies and small-molecule drugs for HCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition stemming from sarcomeric protein variants.
  • These variants disrupt myocardial function, causing hypercontractility, hypertrophy, and fibrosis.
  • Cardiac myosin binding protein C (cMyBP-C) is crucial for myocardial contractility and a common cause of HCM when mutated.

Purpose of the Study:

  • To review the molecular mechanisms of HCM.
  • To explore advancements in translational research for HCM.
  • To highlight novel therapeutic strategies targeting sarcomere function.

Main Methods:

  • Review of existing literature on HCM.
  • Analysis of molecular mechanisms of sarcomeric protein variants.
  • Examination of gene therapy and small-molecule interventions.

Main Results:

  • Sarcomeric protein variants, particularly in cMyBP-C, are a primary cause of HCM.
  • Understanding these variants is key to comprehending myocardial dysfunction.
  • Gene therapy and small-molecule drugs show promise for treating HCM.

Conclusions:

  • HCM pathogenesis is linked to disruptions in sarcomeric protein function.
  • Translational research is yielding novel therapeutic avenues.
  • Targeting sarcomere function offers a promising strategy for HCM treatment.

Keywords:
AAV9 gene transfercMyBP-Cgene therapyhigh-throughput screeninghypertrophic cardiomyopathymyosin binding protein Csmall molecule therapysmall-molecule

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