Inherited cardiomyopathies caused by troponin mutations

Qun Wei Lu, Xiao Yan Wu, Sachio Morimoto

Research output: Contribution to journalReview article

39 Citations (Scopus)

Abstract

Genetic investigations of cardiomyopathy in the recent two decades have revealed a large number of mutations in the genes encoding sarcomeric proteins as a cause of inherited hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), or restrictive cardiomyopathy (RCM). Most functional analyses of the effects of mutations on cardiac muscle contraction have revealed significant changes in the Ca2+-regulatory mechanism, in which cardiac troponin (cTn) plays important structural and functional roles as a key regulatory protein. Over a hundred mutations have been identified in all three subunits of cTn, i.e., cardiac troponins T, I, and C. Recent studies on cTn mutations have provided plenty of evidence that HCM- and RCM-linked mutations increase cardiac myofilament Ca2+ sensitivity, while DCM-linked mutations decrease it. This review focuses on the functional consequences of mutations found in cTn in terms of cardiac myofilament Ca2+ sensitivity, ATPase activity, force generation, and cardiac troponin I phosphorylation, to understand potential molecular and cellular pathogenic mechanisms of the three types of inherited cardiomyopathy.

Original languageEnglish
Pages (from-to)91-101
Number of pages11
JournalJournal of Geriatric Cardiology
Volume10
Issue number1
DOIs
Publication statusPublished - Jun 19 2013

All Science Journal Classification (ASJC) codes

  • Geriatrics and Gerontology
  • Cardiology and Cardiovascular Medicine

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