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Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure
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.
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Cited by
Knöll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., et al. (2002) · Cell · doi:10.1016/s0092-8674(02)01226-6 · Cited by 786
Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012073432304 · Cited by 720
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., & Børglum, A. D. (1999) · Journal of Clinical Investigation · doi:10.1172/jci6460 · Cited by 396
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., et al. (2004) · Nature Genetics · doi:10.1038/ng1329 · Cited by 371
Self-citationEndocytosis and signaling: Cell logistics shape the eukaryotic cell plan
Sigismund, S., Confalonieri, S., Ciliberto, A., Polo, S., Scita, G., & Di Fiore, P. P. (2012) · Physiological Reviews · doi:10.1152/physrev.00005.2011 · Cited by 338
Metadata
- Authors
- Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., & Keating, M. T.
- Venue
- Science
- Published
- 1998-05
- Volume
- 280
- Issue
- 5364
- Pages
- 750-752
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W4238376026
- Cited by
- 623
- References
- 0
- FWCI
- 36.12
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure. https://app.cochat.ai/papers/10.1126/science.280.5364.750
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- Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., & Keating, M. T. (1998). Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure. Science. https://doi.org/10.1126/science.280.5364.750
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