Cardiac troponin mutations and restrictive cardiomyopathy

James D. Potter, Michelle S. Parvatiyar, Jose Renato Pinto, David Dweck

Research output: Contribution to journalReview articlepeer-review

39 Scopus citations


Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM). RCM is clinically characterized as a defect in cardiac diastolic function, such as, impaired ventricular relaxation, reduced diastolic volume and increased end-diastolic pressure. To date, mutations have been identified in the cardiac genes for desmin, -actin, troponin I and troponin T. Functional studies in skinned muscle fibers reconstituted with troponin mutants have established phenotypes consistent with the clinical findings which include an increase in myofilament Ca 2+ sensitivity and basal force. Moreover, when RCM mutants are incorporated into reconstituted myofilaments, the ability to inhibit the ATPase activity is reduced. A majority of the mutations cluster in specific regions of cardiac troponin and appear to be mutational hot spots. This paper highlights the functional and clinical characteristics of RCM linked mutations within the troponin complex.

Original languageEnglish (US)
Article number350706
JournalJournal of Biomedicine and Biotechnology
StatePublished - 2010
Externally publishedYes

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis


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