OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
Open accessAbstract
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres. Most remarkably, we demonstrate that these patients all harboured multiple deletions of mitochondrial DNA (mtDNA) in their skeletal muscle, thus revealing an unrecognized role of the OPA1 protein in mtDNA stability. The five OPA1 mutations associated with these DOA 'plus' phenotypes were all mis-sense point mutations affecting highly conserved amino acid positions and the nuclear genes previously known to induce mtDNA multiple deletions such as POLG1, PEO1 (Twinkle) and SLC25A4 (ANT1) were ruled out. Our results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability.
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OPA1 heterozygous missense recessive mutations cause DOA characterized by an aspecific myopathy with mitochondrial features.
“OPA1 heterozygous missense recessive mutations cause DOA characterized by an aspecific myopathy with mitochondrial features [182, 183].”
From The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass (2021) · cites this paper as [183]
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- Authors
- 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., Iommarini, L., Labauge, P., Figarella-Branger, D., Marcorelles, P., Furby, A., Beauvais, K., Letournel, F., Liguori, R., La Morgia, C., Montagna, P., Liguori, M., Zanna, C., Rugolo, M., Cossarizza, A., Wissinger, B., Verny, C., Schwarzenbacher, R., Martin, M. A., Arenas, J. N., Ayuso, C., Garesse, R., Lenaers, G., Bonneau, D., & Carelli, V.
- Affiliations
- Consejo Superior de Investigaciones Científicas (ES)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-02-01
- Volume
- 131
- Issue
- 2
- Pages
- 338-351
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2109942343
- Cited by
- 520
- References
- 52
- Citations by year
- 2026: 9 · 2025: 13 · 2024: 22 · 2023: 23 · 2022: 21 · 2021: 30 · 2020: 30 · 2019: 33 · 2018: 27 · 2017: 30 · 2016: 28 · 2015: 28 · 2014: 28 · 2013: 35 · 2012: 30
- FWCI
- 13.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Brain (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Agritrop (Cirad) (publishedVersion, cc-by-nc)
- HAL (submittedVersion, other-oa)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by-nc)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by-nc)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Università di Bologna
- Universite Angers
- Retina France
- Instituto de Salud Carlos III (PI060547)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- OPA1, mitochondrial DNA instability, mitochondrial DNA deletions, autosomal dominant optic atrophy, mitochondrial fusion, dynamin-related GTPase, sensorineural hearing loss, ataxia, axonal neuropathy, chronic progressive external ophthalmoplegia, mitochondrial myopathy, cytochrome c oxidase deficiency, ragged-red fibers, dominant negative effect, mitochondrial disease, missense mutations
- MeSH terms
- Adult, Aged, Base Sequence, Child, DNA Mutational Analysis, DNA, Mitochondrial, Female, Fibroblasts, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Models, Molecular, Pedigree, Syndrome, Tomography, X-Ray Computed, Mitochondrial Myopathies, Ophthalmoplegia, Chronic Progressive External, Point Mutation, Muscle, Skeletal, Mutation, Missense, GTP Phosphohydrolases, Optic Atrophy, Autosomal Dominant
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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