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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

Authors: Olson, TM  Michels, VV  Thibodeau, SN  Tai, YS  Keating, MT 
Citation: Olson TM, etal., Science. 1998 May 1;280(5364):750-2.
Pubmed: (View Article at PubMed) PMID:9563954

To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raise the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure.


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CRRD Object Information
CRRD ID: 1559158
Created: 2006-01-06
Species: All species
Last Modified: 2006-01-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.