The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
OPA1 Mutation and Late‐Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability
Open accessAbstract
Background: Mitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot–Marie–Tooth disease and dominant optic atrophy. Previously we reported that the fusion protein optic atrophy 1 ( OPA 1) is decreased in heart failure. Methods and Results: We investigated cardiac function, mitochondrial function, and mtDNA stability in a mouse model of the disease with OPA 1 mutation. The homozygous mutation is embryonic lethal. Heterozygous OPA +/− mice exhibit reduced mtDNA copy number and decreased expression of nuclear antioxidant genes at 3 to 4 months. Although initial cardiac function was normal, at 12 months the OPA 1 +/− mouse hearts had decreased fractional shortening, cardiac output, and myocyte contraction. This coincided with the onset of blindness. In addition to small fragmented mitochondria, aged OPA 1 +/− mice had impaired cardiac mitochondrial function compared with wild‐type littermates. Conclusions: OPA 1 mutation leads to deficiency in antioxidant transcripts, increased reactive oxygen species, mitochondrial dysfunction, and late‐onset cardiomyopathy.
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Citations
Cites
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., et al. (2004) · Nature Genetics · doi:10.1038/ng1341 · Cited by 1,572
Disruption of Fusion Results in Mitochondrial Heterogeneity and Dysfunction
Chen, H., Chomyn, A., & Chan, D. C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m503062200 · Cited by 1,376 · cited 1×
“Reduction in either MFN1 or MFN2 can be partially compensated for by the other MFN protein, suggesting some overlap in function.(23) Knockout of either MFN1 or MFN2 was protective against ischemia/reperfusion injury in cardiomyocytes,(22,24) whereas a combination knockout of MFN1/2 led to rapidly lethal cardiac failur…”
Telomere dysfunction induces metabolic and mitochondrial compromise
Sahin, E., Colla, S., Liesa, M., Moslehi, J., Müller, F. L., Guo, M., Cooper, M., Kotton, D., Fabian, A. J., Walkey, C., et al. (2011) · Nature · doi:10.1038/nature09787 · Cited by 1,319
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis
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Inhibiting Mitochondrial Fission Protects the Heart Against Ischemia/Reperfusion Injury
Ong, S.-B., Subrayan, S., Lim, S. Y., Yellon, D. M., Davidson, S. M., & Hausenloy, D. J. (2010) · Circulation · doi:10.1161/circulationaha.109.906610 · Cited by 986
Mitofusin-2 Determines Mitochondrial Network Architecture and Mitochondrial Metabolism
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain · doi:10.1093/brain/awm298 · Cited by 520
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Cited by
Mitochondrial dynamics in adaptive and maladaptive cellular stress responses
Eisner, V., Picard, M., & Hajnóczky, G. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0133-0 · Cited by 622
Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice
Wai, T., García-Prieto, J., Baker, M. J., Merkwirth, C., Benit, P., Rustin, P., Rupérez, F. J., Barbas, C., Ibañez, B., & Langer, T. (2015) · Science · doi:10.1126/science.aad0116 · Cited by 551
SIRT3 Deacetylates and Activates OPA1 To Regulate Mitochondrial Dynamics during Stress
Samant, S. A., Zhang, H. J., Hong, Z., Pillai, V. B., Sundaresan, N. R., Wolfgeher, D., Archer, S. L., Chan, D. C., & Gupta, M. P. (2014) · Molecular and Cellular Biology · doi:10.1128/mcb.01483-13 · Cited by 446
Mitochondria: from cell death executioners to regulators of cell differentiation
Kasahara, A., & Scorrano, L. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.08.005 · Cited by 426
OPA1 processing in cell death and disease – the long and short of it
MacVicar, T., & Langer, T. (2016) · Journal of Cell Science · doi:10.1242/jcs.159186 · Cited by 426
Metadata
- Authors
- Chen, L., Liu, T., Tran, A., Lu, X., Tomilov, A. A., Davies, V., Cortopassi, G., Chiamvimonvat, N., Bers, D. M., Votruba, M., & Knowlton, A. A.
- Venue
- Journal of the American Heart Association
- Published
- 2012-09-26
- Volume
- 1
- Issue
- 5
- Pages
- e003012-e003012
- ISSN
- 2047-9980 (ISSN-L)
- OpenAlex
- W2099905877
- Cited by
- 223
- References
- 10
- FWCI
- 5.11
- Type
- journal article
- Language
- en
- Open access
- gold
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- Chen, L., Liu, T., Tran, A., Lu, X., Tomilov, A. A., Davies, V., Cortopassi, G., Chiamvimonvat, N., Bers, D. M., Votruba, M., & Knowlton, A. A. (2012). OPA1 Mutation and Late‐Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability. Journal of the American Heart Association. https://doi.org/10.1161/jaha.112.003012
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
