Sarcomeric protein mutations in dilated cardiomyopathy

Audrey N. Chang, James D. Potter

Research output: Contribution to journalArticle

99 Citations (Scopus)

Abstract

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
Pages (from-to)225-235
Number of pages11
JournalHeart Failure Reviews
Volume10
Issue number3
DOIs
StatePublished - Sep 1 2005
Externally publishedYes

Fingerprint

Dilated Cardiomyopathy
Sarcomeres
Mutation
Cytoskeleton
Proteins
Connectin
Troponin C
Vinculin
Sarcolemma
Tropomyosin
Troponin T
Troponin I
Desmin
Myosin Heavy Chains
Missense Mutation
Actins

Keywords

  • Cardiac muscle
  • Dilated cardiomyopathy
  • Mutations
  • Sarcomeric proteins

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Sarcomeric protein mutations in dilated cardiomyopathy. / Chang, Audrey N.; Potter, James D.

In: Heart Failure Reviews, Vol. 10, No. 3, 01.09.2005, p. 225-235.

Research output: Contribution to journalArticle

Chang, Audrey N. ; Potter, James D. / Sarcomeric protein mutations in dilated cardiomyopathy. In: Heart Failure Reviews. 2005 ; Vol. 10, No. 3. pp. 225-235.
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