ArticleMitochondrion2011
Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.
Article in Mitochondrion, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Guanosine 10 methylation by TRMT11-TRMT112 optimizes human mitochondrial tRNAs for efficient translation.Nucleic acids research · 2026Article
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Mitochondrial dysfunction in epilepsy: mechanistic insights and clinical strategies.Molecular biology reports · 2025Review
- A rareTranslational pediatrics · 2025Article
- A Proposal of the Ur-RNAome.Genes · 2023Article
- The Origin of Translation: Bridging the Nucleotides and Peptides.International journal of molecular sciences · 2022Review
- Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELAS.Molecular omics · 2022Article
- Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics.Metabolites · 2021Review
- Intimate Relations-Mitochondria and Ageing.International journal of molecular sciences · 2020Review
- A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.Annals of neurology · 2020Article
- Interpretation of mitochondrial tRNA variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Immortalization of Different Breast Epithelial Cell Types Results in Distinct Mitochondrial Mutagenesis.International journal of molecular sciences · 2019Article
- The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant.Molecular genetics and metabolism reports · 2019Article
- The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.Molecular genetics and metabolism · 2019Article
- Cerebral imaging in paediatric mitochondrial disorders.The neuroradiology journal · 2018Review
- Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.JCI insight · 2016Article
- Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma.BMC cancer · 2015Article
- Structure of the large ribosomal subunit from human mitochondria.Science (New York, N.Y.) · 2014Article
- Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Human mutation · 2013Article
- Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.Pediatric nephrology (Berlin, Germany) · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This mutation has previously been identified in a patient with the mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The mother of the proband also had high levels of the m.1630A>G allele present in blood and other tissues, without symptoms. To confirm the pathogenicity of this mutation, we created cybrid cell lines with various mutation loads. The m.1630A>G mutation impairs oxygen consumption, affects the stability of the MTTV and reduces the levels of subunits of the electron transport chain.
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Registered trials
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