ArticleScientific reports2016
Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- IgA nephropathy is associated with elevated urinary mitochondrial DNA copy numbers.Scientific reports · 2019Trial
- Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.Kidney international reports · 2026Article
- Computational design of a high-precision mitochondrial DNA cytosine base editor.Nature structural & molecular biology · 2025Article
- Dimeric CCK2R radiotheranostic tracers synergize with mTOR inhibition for enhanced tumor therapy.Theranostics · 2025Article
- Leber's hereditary optic neuropathy like disease inAmerican journal of ophthalmology case reports · 2024Article
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.International journal of molecular sciences · 2024Review
- Focus on Mitochondrial Respiratory Chain: Potential Therapeutic Target for Chronic Renal Failure.International journal of molecular sciences · 2024Review
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.Human molecular genetics · 2022Article
- The ATP Synthase Deficiency in Human Diseases.Life (Basel, Switzerland) · 2021Review
- Case Report: Identification of a Novel Variant (m.8909T>C) of Human MitochondrialLife (Basel, Switzerland) · 2020Article
- Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in MitochondrialInternational journal of molecular sciences · 2020Article
- Minor Glomerular Abnormalities are Associated with Deterioration of Long-Term Kidney Function and Mitochondrial Injury.Journal of clinical medicine · 2019Article
- The Role of Cardiolipin and Mitochondrial Damage in Kidney Transplant.Oxidative medicine and cellular longevity · 2019Review
- Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.Haematologica · 2018Article
- Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.Neurogenetics · 2018Article
- Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.Neurogenetics · 2018Article
- ATP Synthase Diseases of Mitochondrial Genetic Origin.Frontiers in physiology · 2018Review
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here we elucidated the pathogenesis of a 14-year-old Chinese female who initially developed an isolated nephropathy followed by a complex clinical presentation with brain and muscle problems, which indicated that the disease process was possibly due to a mitochondrial dysfunction. Careful evaluation of renal biopsy samples revealed a decreased staining of cells induced by COX and NADH dehydrogenase activities, and a strong fragmentation of the mitochondrial network. These anomalies were due to the presence of a mutation in the mitochondrial ATP6 gene, G8969>A. This mutation leads to replacement of a highly conserved serine residue at position 148 of the a-subunit of ATP synthase. Increasing the mutation load in cybrid cell lines was paralleled by the appearance of abnormal mitochondrial morphologies, diminished respiration and enhanced production of reactive oxygen species. An equivalent of the G8969>A mutation in yeast had dramatic consequences on ATP synthase, with a block in proton translocation. The mutation was particularly abundant (89%) in the kidney compared to blood and urine, which is likely the reason why this organ was affected first. Based on these findings, we suggest that nephrologists should pay more attention to the possibility of a mitochondrial dysfunction when evaluating patients suffering from kidney problems.
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