ArticleEuropean journal of human genetics : EJHG2015
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAHuman mutation · 2025Article
- Functional analysis of the novel mitochondrial tRNAWorld journal of diabetes · 2024Article
- Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.Journal of neurology · 2024Article
- Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.PloS one · 2024Article
- The tRNA identity landscape for aminoacylation and beyond.Nucleic acids research · 2023Review
- Molecular Genetics Overview of Primary Mitochondrial Myopathies.Journal of clinical medicine · 2022Review
- Applying genomic and transcriptomic advances to mitochondrial medicine.Nature reviews. Neurology · 2021Review
- Potential of Mitochondrial Genome Editing for Human Fertility Health.Frontiers in genetics · 2021Review
- Intimate Relations-Mitochondria and Ageing.International journal of molecular sciences · 2020Review
- Review
- Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.PloS one · 2020Article
- What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?Evolutionary applications · 2019Article
- MitoTALEN reduces mutant mtDNA load and restores tRNANature medicine · 2018Article
- A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.Molecular genetics and metabolism reports · 2016Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings including cytochrome c oxidase (COX)-deficient fibres. Pyrosequencing confirmed mtDNA heteroplasmy for both mutations (m.5631G>A and m.5610G>A) whilst single-muscle fibre segregation studies (revealing statistically significant higher mutation loads in COX-deficient fibres than in COX-positive fibres), hierarchical mutation segregation within patient tissues and decreased steady-state mt-tRNA(Ala) levels all provide compelling evidence of pathogenicity. Interestingly, both patients showed very high-mutation levels in all tissues, inferring that the threshold for impairment of oxidative phosphorylation, as evidenced by COX deficiency, appears to be extremely high for these mt-tRNA(Ala) variants. Previously described mt-tRNA(Ala) mutations are also associated with a pure myopathic phenotype and demonstrate very high mtDNA heteroplasmy thresholds, inferring at least some genotype:phenotype correlation for mutations within this particular mt-tRNA gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.