Cardiac myosin binding protein-C: a novel sarcomeric target for gene therapy

Pflugers Arch. 2014 Feb;466(2):225-30. doi: 10.1007/s00424-013-1412-z. Epub 2013 Dec 6.

Abstract

Through its ability to interact with both the thick and thin filament proteins within the sarcomere, cardiac myosin binding protein-C (cMyBP-C) regulates the contractile properties of the myocardium. The central regulatory role of cMyBP-C in heart function is emphasized by the fact that a large proportion of inherited hypertrophic cardiomyopathy cases in humans are caused by mutations in cMyBP-C. The primary dysfunction in cMyBP-C-related cardiomyopathies is likely to be abnormal myofilament contractile function; however, currently, there are no effective therapies for ameliorating these contractile defects. Thus, there is a compelling need to design novel therapies to restore normal contractile function in cMyBP-C-related cardiomyopathies. To this end, concepts gleaned from various structural, functional, and biochemical studies can now be utilized to engineer cMyBP-C proteins that, when incorporated into the sarcomere, can significantly improve contractile function. In this review, we discuss the rationale for cMyBP-C-based gene therapies that can be utilized to treat contractile dysfunction in inherited and acquired cardiomyopathies.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / therapy
  • Carrier Proteins / biosynthesis
  • Carrier Proteins / genetics*
  • Genetic Therapy / methods*
  • Humans
  • Myocardial Contraction / drug effects*
  • Myocardial Contraction / physiology
  • Myocardium / metabolism
  • Myofibrils / metabolism
  • Sarcomeres / drug effects
  • Sarcomeres / metabolism

Substances

  • Carrier Proteins
  • myosin-binding protein C