Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure
- 1 May 1998
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 280 (5364), 750-752
- https://doi.org/10.1126/science.280.5364.750
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.Keywords
This publication has 17 references indexed in Scilit:
- Models of Thin Filament Assembly in Cardiac and Skeletal Muscle.Cell Structure and Function, 1997
- Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.JCI Insight, 1996
- Mapping a cardiomyopathy locus to chromosome 3p22-p25.JCI Insight, 1996
- Familial dilated cardiomyopathyHeart, 1994
- The causes of dilated cardiomyopathy: A clinicopathologic review of 673 consecutive patientsJournal of the American College of Cardiology, 1994
- Actin molecular structure and functionCurrent Opinion in Cell Biology, 1993
- The vinculin/sarcomeric-alpha-actinin/alpha-actin nexus in cultured cardiac myocytesThe Journal of cell biology, 1992
- Atomic structure of the actin: DNase I complexNature, 1990
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences of the United States of America, 1989
- Echocardiographic measurements in normal subjects from infancy to old age.Circulation, 1980