Cited by 449Mitochondrial Function and PathologyGlaucoma and retinal disordersRetinal Development and Disorders

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Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

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Davies, Vanessa J., Hollins, Andrew J., Piechota, Malgorzata J., Yip, Wanfen, Davies, Jennifer R., White, Kathryn E., Nicols, Phillip P., Boulton, Michael E., Votruba, Marcela·2007·Human Molecular Genetics

DOI 10.1093/hmg/ddm079

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Abstract

OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner mitochondrial membrane, which plays a role in mitochondrial fusion. Mutations in the OPA1 gene on chromosome 3q28-qter are associated with autosomal dominant optic atrophy (ADOA), the most common inherited optic neuropathy, in which retinal ganglion cells (RGCs) are lost and visual acuity is impaired from an early age. We have generated a novel ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in opa1 in order to explore the pathophysiology of ADOA. The heterozygous mutation, B6; C3-Opa1(Q285STOP), located in exon 8 immediately before the central dynamin-GTPase, leads to approximately 50% reduction in opa1 protein in retina and all tissues on western analysis. The homozygous mutation is embryonic lethal by 13.5 days post coitum, demonstrating the importance of Opa1 during early development. Fibroblasts taken from adult heterozygous mutant mice show an apparent alteration in morphology, with an increase in mitochondrial fission and fragmentation. Heterozygous mutants show a slow onset of degeneration in the optic nerve electron microscopy. Furthermore, they demonstrate a functional reduction in visual function on testing with the optokinetic drum and the circadian running wheel. These findings indicate that the opa1 GTPase contains crucial information required for the survival of RGCs and that Opa1 is essential for early embryonic survival. The Opa1 +/- mice described here provide a means to directly investigate the cellular pathophysiology of OPA1 ADOA.

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Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
Chen, H., Detmer, S. A., Ewald, A. J., Griffin, E. E., Fraser, S. E., & Chan, D. C. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200211046 · Cited by 2,601
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Frezza, C., Cipolat, S., Martins de Brito, O., Micaroni, M., Beznoussenko, G. V., Rudka, T., Bartoli, D., Polishuck, R. S., Danial, N. N., De Strooper, B., et al. (2006) · Cell · doi:10.1016/j.cell.2006.06.025 · Cited by 1,673
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., et al. (2000) · Nature Genetics · doi:10.1038/79936 · Cited by 1,446
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×
“These proteins include pro-fusion GTPases: mitofusin (Mfn) 1 and 2; and pro-fission GTPases: dynamin related protein 1 (Drp1) and Fis 1 (17,23).”
Background
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics · doi:10.1038/79944 · Cited by 1,330
Self-citation
OPA1 requires mitofusin 1 to promote mitochondrial fusion
Cipolat, S., de Brito, O. M., Dal Zilio, B., & Scorrano, L. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407043101 · Cited by 1,300
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Olichon, A., Baricault, L., Gas, N., Guillou, E., Valette, A., Belenguer, P., & Lenaers, G. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.c200677200 · Cited by 1,168
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis
Lee, Y.-J., Jeong, S.-Y., Karbowski, M., Smith, C. L., & Youle, R. J. (2004) · Molecular Biology of the Cell · doi:10.1091/mbc.e04-04-0294 · Cited by 1,042
Regulation of mitochondrial morphology through proteolytic cleavage of OPA1
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Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
Rogers, D. C., Fisher, E. M. C., Brown, S. D. M., Peters, J., Hunter, A. J., & Martin, J. E. (1997) · Mammalian Genome · doi:10.1007/s003359900551 · Cited by 795

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Song, J., Li, Q., Ke, L., Liang, J., Jiao, W., Pan, H., Li, Y., Du, Q., Song, Y., Ji, A., et al. (2021) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2021/6660616 · Cited by 15
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Moore‐Scott, B. A., Aviles, G. D. G., Larkins, C. E., Hillman, M. J., & Caspary, T. (2010) · Mammalian Genome · doi:10.1007/s00335-010-9272-8 · Cited by 15
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Venkatesh, A., McKenty, T., Ali, S., Sonntag, D., Ravipaty, S., Cui, Y., Slate, D., Lin, Q., Christiansen, A., Jacobson, S. J., et al. (2024) · Nucleic Acid Therapeutics · doi:10.1089/nat.2024.0022 · Cited by 14

Authors: Davies, V. J., Hollins, A. J., Piechota, M. J., Yip, W., Davies, J. R., White, K. E., Nicols, P. P., Boulton, M. E., & Votruba, M.
Affiliations: Cardiff University (GB)
Newcastle University (GB)
The University of Texas Medical Branch at Galveston (US)
University Hospital of Wales (GB)
Corresponding author: Votruba, Marcela
ORCID: Hollins, Andrew J.
Piechota, Malgorzata J.
Davies, Jennifer R.
White, Kathryn E.
Boulton, Michael E.
Votruba, Marcela
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2007-04-11
Volume: 16
Issue: 11
Pages: 1307-1318
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddm079
OpenAlex: W2161437961
Cited by: 449
References: 53
Citations by year: 2026: 7 · 2025: 18 · 2024: 20 · 2023: 25 · 2022: 16 · 2021: 40 · 2020: 34 · 2019: 20 · 2018: 17 · 2017: 27 · 2016: 21 · 2015: 31 · 2014: 17 · 2013: 17 · 2012: 34
FWCI: 10.49
Type: journal article
Language: en
Open access: green
doi.org
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Explore Bristol Research (submittedVersion)
Newcastle University ePrints (Newcastle Univesity)
Funders: University of North Texas
Cardiff University
Medical Research Council (G108523)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Keywords: OPA1, autosomal dominant optic atrophy, mitochondrial fusion, mitochondrial fission, mitochondrial morphology, retinal ganglion cells, optic nerve degeneration, visual function, embryonic lethality, dynamin-related GTPase, inherited optic neuropathy
MeSH terms: Animals, Base Sequence, Cells, Cultured, Male, Mice, Inbred C3H, Mitochondria, Molecular Sequence Data, Optic Nerve, Vision, Ocular, Amino Acid Substitution, GTP Phosphohydrolases, Optic Atrophy, Autosomal Dominant, Mice

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Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

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