The DOI matches its Crossref record; 24 of the 25 references it cites were found in a registry or an index.
Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy
Abstract
BACKGROUND: Vinculin and its isoform metavinculin are protein components of intercalated discs, structures that anchor thin filaments and transmit contractile force between cardiac myocytes. We tested the hypothesis that heritable dysfunction of metavinculin may contribute to the pathogenesis of dilated cardiomyopathy (DCM). METHODS AND RESULTS: We performed mutational analyses of the metavinculin-specific exon of vinculin in 350 unrelated patients with DCM. One missense mutation (Arg975Trp) and one 3-bp deletion (Leu954del) were identified. These mutations involved conserved amino acids, were absent in 500 control individuals, and significantly altered metavinculin-mediated cross-linking of actin filaments in an in vitro assay. Ultrastructural examination was performed in one patient (Arg975Trp), revealing grossly abnormal intercalated discs. A potential risk-conferring polymorphism (Ala934Val), identified in one DCM patient and one control individual, had a less pronounced effect on actin filament cross-linking. CONCLUSIONS: These data provide genetic and functional evidence for vinculin as a DCM gene and suggest that metavinculin plays a critical role in cardiac structure and function. Disruption of force transmission at the thin filament-intercalated disc interface is the likely mechanism by which mutations in metavinculin may lead to DCM.
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“Defects in VCL are associated with dilated cardiomyopathy in humans (Olson et al., 2002).”
From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Olson et al., 2002
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Dilated cardiomyopathy: the complexity of a diverse genetic architecture
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Metadata
- Authors
- Olson, T. M., Illenberger, S., Kishimoto, N. Y., Huttelmaier, S., Keating, M. T., & Jockusch, B. M.
- Affiliations
- Howard Hughes Medical Institute (US)
- From the Department of Pediatrics and the Division of Cardiology (T.M.O., N.Y.K.) and the Departments of Human Genetics and Medicine, Division of Cardiology, and Howard Hughes Medical Institute (M.T.K.), University of Utah, Salt Lake City, Utah; and Cell Biology, Zoological Institute (S.I., S.H., B.M.J.), Technical University of Braunschweig, Braunschweig, Germany. Dr Keating currently is at the Department of Cell Biology, Harvard Medical School and the Department of Cardiology, Children’s Hospital,...
- ORCID
- Olson, Timothy M.
- Venue
- Circulation
- Published
- 2002-01-29
- Volume
- 105
- Issue
- 4
- Pages
- 431-437
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W1991072112
- Cited by
- 278
- References
- 25
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 9 · 2023: 8 · 2022: 7 · 2021: 7 · 2020: 7 · 2019: 14 · 2018: 3 · 2017: 9 · 2016: 16 · 2015: 11 · 2014: 8 · 2013: 10 · 2012: 13
- FWCI
- 11.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Heart Association
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Keywords
- metavinculin, dilated cardiomyopathy, vinculin, intercalated discs, actin filament cross-linking, thin filament, missense mutations, force transmission
- MeSH terms
- Actins, Adult, Aged, Amino Acid Sequence, Cardiomyopathy, Dilated, DNA Mutational Analysis, Humans, Actin Cytoskeleton, Middle Aged, Molecular Sequence Data, Mutation, Myocardium, Pedigree, Sequence Alignment, Vinculin, Conserved Sequence
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