Sarcomeric proteins and inherited cardiomyopathies

Sachio Morimoto

Research output: Contribution to journalReview articlepeer-review

130 Citations (Scopus)

Abstract

Over the last two decades, a large number of mutations have been identified in sarcomeric proteins as a cause of hypertrophic, dilated or restrictive cardiomyopathy. Functional analyses of mutant proteins in vitro have revealed several important functional changes in sarcomeric proteins that might be primarily involved in the pathogenesis of each cardiomyopathy. Creation of transgenic or knock-in animals expressing mutant proteins in their hearts confirmed that these mutations in genes for sarcomeric proteins induced distinct types of cardiomyopathies and provided useful animal models to explore the molecular pathogenic mechanisms and potential therapeutics of cardiomyopathy in vivo. In this review, I discuss the functional consequences of mutations in different sarcomeric proteins found in hypertrophic, dilated, and restrictive cardiomyopathies in conjunction with their effects on cardiac structure and function in vivo and their possible molecular and cellular mechanisms, which underlie the pathogenesis of these inherited cardiomyopathies.

Original languageEnglish
Pages (from-to)659-666
Number of pages8
JournalCardiovascular research
Volume77
Issue number4
DOIs
Publication statusPublished - Mar 1 2008

All Science Journal Classification (ASJC) codes

  • Physiology
  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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