ArticleCell death & disease2016
Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
Article in Cell death & disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.Science advances · 2026Article
- OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation.Journal of translational medicine · 2025Article
- Optic Atrophy 1: The Conductor of Cellular Harmony and Age-Related Pathologies.Aging and disease · 2025Review
- Article
- Disruption of mitochondrial quality control genes promotes caspase-resistant cell survival following apoptotic stimuli.The Journal of biological chemistry · 2022Article
- Mitochondrial dynamics in the neonatal brain - a potential target following injury?Bioscience reports · 2022Review
- High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.EMBO molecular medicine · 2021Article
- A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1.Frontiers in neurology · 2021Article
- Association Between L-OPA1 Cleavage and Cardiac Dysfunction During Ischemia-Reperfusion Injury in Rats.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2020Article
- Effects of Diabetes on Mitochondrial Morphology and Its Implications in Diabetic Retinopathy.Investigative ophthalmology & visual science · 2020Article
- Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.Investigative ophthalmology & visual science · 2020Article
- Hippo/Mst signaling coordinates cellular quiescence with terminal maturation in iNKT cell development and fate decisions.The Journal of experimental medicine · 2020Article
- OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory.Brain communications · 2020Article
- Mitochondrial dynamics and their potential as a therapeutic target.Mitochondrion · 2019Review
- Phenotypic selection with an intrabody library reveals an anti-apoptotic function of PKM2 requiring Mitofusin-1.PLoS biology · 2019Article
- Targeted next-generation sequencing extends the mutational spectrums forMolecular vision · 2019Article
- Mitochondrial dynamics in adaptive and maladaptive cellular stress responses.Nature cell biology · 2018Review
- Overexpression of Optic Atrophy Type 1 Protects Retinal Ganglion Cells and Upregulates Parkin Expression in Experimental Glaucoma.Frontiers in molecular neuroscience · 2018Article
- Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.Journal of cellular and molecular medicine · 2017Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in the opa1 (optic atrophy 1) gene lead to autosomal dominant optic atrophy (ADOA), a hereditary eye disease. This gene encodes the Opa1 protein, a mitochondrial dynamin-related GTPase required for mitochondrial fusion and the maintenance of normal crista structure. The majority of opa1 mutations encode truncated forms of the protein, lacking a complete GTPase domain. It is unclear whether the phenotype results from haploinsufficiency or rather a deleterious effect of truncated Opa1 protein. We studied a heterozygous Opa1 mutant mouse carrying a defective allele with a stop codon in the beginning of the GTPase domain at residue 285, a mutation that mimics human pathological mutations. Using an antibody raised against an N-terminal portion of Opa1, we found that the level of wild-type protein was decreased in the mutant mice, as predicted. However, no truncated Opa1 protein was expressed. In embryonic fibroblasts isolated from the mutant mice, this partial loss of Opa1 caused mitochondrial respiratory deficiency and a selective loss of respiratory Complex IV subunits. Furthermore, partial Opa1 deficiency resulted in a substantial resistance to endoplasmic reticulum stress-induced death. On the other hand, the enforced expression of truncated Opa1 protein in cells containing normal levels of wild-type protein did not cause mitochondrial defects. Moreover, cells expressing the truncated Opa1 protein showed reduced Bax activation in response to apoptotic stimuli. Taken together, our results exclude deleterious dominant-negative or gain-of-function mechanisms for this type of Opa1 mutation and affirm haploinsufficiency as the mechanism underlying mitochondrial dysfunction in ADOA.
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