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

Ruth H. Willott, Aldrin V. Gomes, Audrey N. Chang, Michelle S. Parvatiyar, Jose Renato Pinto, James D. Potter

Research output: Contribution to journalArticle

133 Citations (Scopus)

Abstract

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 Ca2+ sensitivity of force production. Mutations associated with HCM and RCM show increased Ca2+ sensitivity of force production while mutations associated with DCM demonstrate decreased Ca2+ 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.

Original languageEnglish
Pages (from-to)882-892
Number of pages11
JournalJournal of Molecular and Cellular Cardiology
Volume48
Issue number5
DOIs
StatePublished - May 1 2010
Externally publishedYes

Fingerprint

Troponin
Mutation
Restrictive Cardiomyopathy
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Cardiomyopathies
Myofibrils
Muscle Contraction
Adenosine Triphosphatases
Myocardium
Research

Keywords

  • ATPase
  • Calcium sensitivity
  • Cardiomyopathy
  • Mutations
  • Troponin

ASJC Scopus subject areas

  • Molecular Biology
  • Cardiology and Cardiovascular Medicine

Cite this

Mutations in Troponin that cause HCM, DCM AND RCM : What can we learn about thin filament function? / Willott, Ruth H.; Gomes, Aldrin V.; Chang, Audrey N.; Parvatiyar, Michelle S.; Pinto, Jose Renato; Potter, James D.

In: Journal of Molecular and Cellular Cardiology, Vol. 48, No. 5, 01.05.2010, p. 882-892.

Research output: Contribution to journalArticle

Willott, Ruth H. ; Gomes, Aldrin V. ; Chang, Audrey N. ; Parvatiyar, Michelle S. ; Pinto, Jose Renato ; Potter, James D. / Mutations in Troponin that cause HCM, DCM AND RCM : What can we learn about thin filament function?. In: Journal of Molecular and Cellular Cardiology. 2010 ; Vol. 48, No. 5. pp. 882-892.
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