Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
Open accessAbstract
Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated with the secondary accumulation of multiple mtDNA deletions in affected tissues. The majority of families with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutations in genes encoding one of three well-characterized proteins--pol gamma, Twinkle or Ant 1. Here we show that a heterozygous mis-sense mutation in OPA1 leads to multiple mtDNA deletions in skeletal muscle and a mosaic defect of cytochrome c oxidase (COX). The disorder presented with visual failure and optic atrophy in childhood, followed by PEO, ataxia, deafness and a sensory-motor neuropathy in adult life. COX-deficient skeletal muscle fibres contained supra-threshold levels of multiple mtDNA deletions, and genetic linkage, sequencing and expression analysis excluded POLG1, PEO1 and SLC25A4, the gene encoding Ant 1, as the cause. This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA.
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OPA1 mutations cause ADOA plus syndrome, which includes severe myopathy.
“In addition to dominant optic atrophy, OPA1 mutations also cause a multi-systemic disorder called ADOA plus syndrome, which results in severe myopathy (Amati-Bonneau et al, 2008;Hudson et al, 2008;Zeviani, 2008).”
From Mitochondrial DNA and TLR9 drive muscle inflammation upon Opa1 deficiency (2018) · cites this paper as Hudson et al, 2008
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- Authors
- Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., McFarland, R., Turnbull, D. M., Chinnery, P. F., & Taylor, R. W.
- Affiliations
- University of Helsinki (FI)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-12-07
- Volume
- 131
- Issue
- 2
- Pages
- 329-337
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2120695551
- Cited by
- 428
- References
- 53
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 22 · 2023: 16 · 2022: 18 · 2021: 23 · 2020: 24 · 2019: 23 · 2018: 16 · 2017: 16 · 2016: 25 · 2015: 30 · 2014: 25 · 2013: 33 · 2012: 29
- FWCI
- 12.20
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Brain (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (acceptedVersion)
- HAL (submittedVersion)
- Funders
- Wellcome Trust (074454)
- Institut National de la Santé et de la Recherche Médicale
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Muscular Dystrophy UK
- Universite Angers
- Retina France
- 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 maintenance, chronic progressive external ophthalmoplegia, optic atrophy, ataxia, deafness, cytochrome c oxidase deficiency, skeletal muscle, mitochondrial disease, autosomal dominant inheritance, mitochondrial DNA polymerase gamma, Twinkle
- MeSH terms
- Adult, Amino Acid Sequence, Ataxia, Base Sequence, Child, Child, Preschool, Deafness, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Mitochondria, Muscle, Molecular Sequence Data, Pedigree, Ophthalmoplegia, Chronic Progressive External, Gene Deletion, Muscle, Skeletal, Mutation, Missense, GTP Phosphohydrolases, Optic Atrophy, Autosomal Dominant
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