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- Title
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
- Authors
Olson, T M; Michels, V V; Thibodeau, S N; Tai, Y S; Keating, M T
- Abstract
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.
- Publication
Science (New York, N.Y.), 1998, Vol 280, Issue 5364, p750
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.280.5364.750