ArticleAnnals of clinical and translational neurology2016
Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.
Article in Annals of clinical and translational neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 40 citations in OpenAlex.
- Harpagide Confers Protection Against Acute Lung Injury Through Multi-Omics Dissection of Immune-Microenvironmental Crosstalk and Convergent Therapeutic Mechanisms.Pharmaceuticals (Basel, Switzerland) · 2025Article
- A High-Fat Diet Induces Oxidative Stress in OPA1Antioxidants (Basel, Switzerland) · 2025Article
- Mitochondrial protein OPA1 is required for the expansion of effector CD8 T cells.Cell reports · 2025Article
- Impacts of mitochondrial dysfunction on axonal microtubule bundles as a potential mechanism of neurodegeneration.Frontiers in neuroscience · 2025Review
- IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy.Frontiers in ophthalmology · 2025Review
- Maculopapillary Bundle Degeneration in Optic Neuropathies.Current neurology and neuroscience reports · 2024Review
- The human OPA1Cellular and molecular life sciences : CMLS · 2024Article
- Article
- OPA1 deficiency impairs oxidative metabolism in cycling cells, underlining a translational approach for degenerative diseases.Disease models & mechanisms · 2023Article
- Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis.Frontiers in molecular neuroscience · 2023Article
- Rhodiola pre-conditioning reduces exhaustive exercise-induced myocardial injury of insulin resistant mice.Scientific reports · 2022Article
- Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.Human molecular genetics · 2022Article
- Neuron-periphery mitochondrial stress communication in aging and diseases.Life medicine · 2022Review
- Post-translational modifications by SIRT3 de-2-hydroxyisobutyrylase activity regulate glycolysis and enable nephrogenesis.Scientific reports · 2021Article
- The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance.Frontiers in neuroscience · 2021Review
- Review
- Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis.Frontiers in neurology · 2021Review
- Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.Scientific reports · 2020Article
- Restoration of L-OPA1 alleviates acute ischemic stroke injury in rats via inhibiting neuronal apoptosis and preserving mitochondrial function.Redox biology · 2020Article
- Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.Human molecular genetics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveOPA1 mutations cause protein haploinsufficiency leading to dominant optic atrophy (DOA), an incurable retinopathy with variable severity. Up to 20% of patients also develop extraocular neurological complications. The mechanisms that cause this optic atrophy or its syndromic forms are still unknown. After identifying oxidative stress in a mouse model of the pathology, we sought to determine the consequences of OPA1 dysfunction on redox homeostasis.
methodsMitochondrial respiration, reactive oxygen species levels, antioxidant defenses, and cell death were characterized by biochemical and in situ approaches in both in vitro and in vivo models of OPA1 haploinsufficiency.
resultsA decrease in aconitase activity suggesting an increase in reactive oxygene species and an induction of antioxidant defenses was observed in cortices of a murine model as well as in OPA1 downregulated cortical neurons. This increase is associated with a decline in mitochondrial respiration in vitro. Upon exogenous oxidative stress, OPA1-depleted neurons did not further exhibit upregulated antioxidant defenses but were more sensitive to cell death. Finally, low levels of antioxidant enzymes were found in fibroblasts from patients supporting their role as modifier factors.
interpretationOur study suggests that the pro-oxidative state induced by OPA1 loss may contribute to DOA pathogenesis and that differences in antioxidant defenses can explain the variability in expressivity. Furthermore, antioxidants may be used as therapy as they could prevent or delay DOA symptoms in patients.
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Registered trials
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