Sarcomeric protein mutations in dilated cardiomyopathy

Audrey N. Chang, James D. Potter

Research output: Contribution to journalReview articlepeer-review

115 Scopus citations


This review aims to provide a concise summary of the DCM associated mutations identified in the proteins of the sarcomere and cytoskeleton, and discuss the reported effects of the mutations, as determined by functional studies, and in relation to the known structure of the protein affected. The mechanisms by which single missense mutations in the proteins of the sarcomere can lead to similar diseases as those caused by mutations in the proteins of the sarcolemma and cytoskeleton, are still unknown. However, a wide variety of mutations being associated with DCM suggests a complex mechanism shared by the proteins affected. The DCM mutations reviewed here are those of the β-myosin heavy chain (β-MHC), myosin binding protein-C (MyBP-C), actin, α- tropomyosin (Tm), troponin T (TnT), troponin I (TnI), troponin C (TnC), of the sarcomere, and titin, T-cap, desmin, vinculin, and muscle LIM protein (MLP) of the cytoskeleton.

Original languageEnglish (US)
Pages (from-to)225-235
Number of pages11
JournalHeart Failure Reviews
Issue number3
StatePublished - Sep 2005


  • Cardiac muscle
  • Dilated cardiomyopathy
  • Mutations
  • Sarcomeric proteins

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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