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Science 1 May 1998:
Vol. 280. no. 5364, pp. 750 - 752
DOI: 10.1126/science.280.5364.750
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Reports

Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

Timothy M. Olson, * Virginia V. Michels, Stephen N. Thibodeau, Yin-Shan Tai, Mark T. Keating

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.

T. M. Olson and Y.-S. Tai, Department of Pediatrics, Division of Cardiology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA.
V. V. Michels, Department of Medical Genetics, Mayo Clinic/Foundation, Rochester, MN 55905, USA.
S. N. Thibodeau, Department of Laboratory Medicine and Pathology, Mayo Clinic/Foundation, Rochester, MN 55905, USA.
M. T. Keating, Howard Hughes Medical Institute, Eccles Institute of Human Genetics, Department of Human Genetics, and Department of Medicine, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA.
*   To whom correspondence should be addressed. E-mail: timo{at}howard.genetics.utah.edu

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Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome.
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Circulation 103, 1256-1263
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Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics.
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Progression from hypertrophic to dilated cardiomyopathy in mice that express a mutant myosin transgene.
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Am J Physiol Heart Circ Physiol 280, H151-H159
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Mitochondrial pathology in cardiac failure.
J. Marin-Garcia, M. J Goldenthal, and G. W Moe (2001)
Cardiovasc Res 49, 17-26
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Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.
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PNAS
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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy.
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