Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

J Mol Cell Cardiol. 2010 May;48(5):882-92. doi: 10.1016/j.yjmcc.2009.10.031. Epub 2009 Nov 12.


Troponin (Tn) is a critical regulator of muscle contraction in cardiac muscle. Mutations in Tn subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies. Improved diagnosis of cardiomyopathies as well as intensive investigation of new mouse cardiomyopathy models has significantly enhanced this field of research. Recent investigations have showed that the physiological effects of Tn mutations associated with hypertrophic, dilated and restrictive cardiomyopathies are different. Impaired relaxation is a universal finding of most transgenic models of HCM, predicted directly from the significant changes in Ca(2+) sensitivity of force production. Mutations associated with HCM and RCM show increased Ca(2+) sensitivity of force production while mutations associated with DCM demonstrate decreased Ca(2+) sensitivity of force production. This review spotlights recent advances in our understanding on the role of Tn mutations on ATPase activity, maximal force development and heart function as well as the correlation between the locations of these Tn mutations within the thin filament and myofilament function.

Publication types

  • Review

MeSH terms

  • Animals
  • Calcium / metabolism
  • Cardiomyopathy, Dilated / etiology
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Hypertrophic / etiology
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / metabolism
  • Cardiomyopathy, Restrictive / etiology
  • Cardiomyopathy, Restrictive / genetics*
  • Cardiomyopathy, Restrictive / metabolism
  • Humans
  • Mutation
  • Troponin / genetics*


  • Troponin
  • Calcium