ArticleBiochimica et biophysica acta2013
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Article in Biochimica et biophysica acta, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 20 citations in OpenAlex.
- Disease models of Leigh syndrome: From yeast to organoids.Journal of inherited metabolic disease · 2024Review
- Mitochondrial complex I subunitHeliyon · 2024Review
- Engineering RsDddA as mitochondrial base editor with wide target compatibility and enhanced activity.Molecular therapy. Nucleic acids · 2023Article
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy.eNeurologicalSci · 2019Article
- Cybrid Models of Pathological Cell Processes in Different Diseases.Oxidative medicine and cellular longevity · 2018Review
- Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.Biochimica et biophysica acta · 2016Article
- Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.PloS one · 2015Article
- Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.BMC neurology · 2014Article
- Parkinson's disease: a complex interplay of mitochondrial DNA alterations and oxidative stress.International journal of molecular sciences · 2013Article
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21 authors at 7 institutions in 1 country.
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Abstract
Complex I (CI) deficiency is a frequent cause of mitochondrial disorders and, in most cases, is due to mutations in CI subunit genes encoded by mitochondrial DNA (mtDNA). In this study, we establish the pathogenic role of the heteroplasmic mtDNA m.3890G>A/MT-ND1 (p.R195Q) mutation, which affects an extremely conserved amino acid position in ND1 subunit of CI. This mutation was found in a young-adult male with optic atrophy resembling Leber's hereditary optic neuropathy (LHON) and bilateral brainstem lesions. The only previously reported case with this mutation was a girl with fatal infantile Leigh syndrome with bilateral brainstem lesions. Transfer of the mutant mtDNA in the cybrid cell system resulted in a marked reduction of CI activity and CI-dependent ATP synthesis in the presence of a normally assembled enzyme. These findings establish the pathogenicity of the m.3890G>A/MT-ND1 mutation and remark the link between CI mutations affecting the mtDNA-encoded ND subunits and LHON-like optic atrophy, which may be complicated by bilateral and symmetric lesions affecting the central nervous system. Peculiar to this mutation is the distribution of the brainstem lesions, with sparing of the striatum in both patients.
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