ArticleMolecular and cellular biochemistry2015
The tRNA(Gly) T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNA(Gly), increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential.
Article in Molecular and cellular biochemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.Irish journal of medical science · 2022Article
- Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus.International journal of general medicine · 2021Article
- Mitochondrial tRNA mutations in Chinese Children with Tic Disorders.Bioscience reports · 2020Article
- Novel mitochondrial tRNAWorld journal of pediatrics : WJP · 2020Article
- Mitochondrial Genome (mtDNA) Mutations that Generate Reactive Oxygen Species.Antioxidants (Basel, Switzerland) · 2019Review
- Contribution of Mitochondrial DNA Variation to Chronic Disease in East Asian Populations.Frontiers in molecular biosciences · 2019Review
- The Mitochondrial tRNABalkan journal of medical genetics : BJMG · 2018Article
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8 authors at 2 institutions in 1 country.
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Abstract
Mitochondrial diabetes originates mainly from mutations located in maternally transmitted, mitochondrial tRNA-coding genes. In a genetic screening program of type 2 diabetes conducted with a Chinese Han population, we found one family with suggestive maternally transmitted diabetes. The proband's mitochondrial genome was analyzed using DNA sequencing. Total 42 known nucleoside changes and 1 novel variant were identified, and the entire mitochondrial DNA sequence was assigned to haplogroup M11b. Phylogenetic analysis showed that a homoplasmic mutation, 10003T>C transition, occurred at the highly conserved site in the gene encoding tRNA(Gly). Using a transmitochondrial cybrid cell line harboring this mutation, we observed that the steady-state level of tRNA(Gly) significantly affected and the amount of tRNA(Gly) decreased by 97%, production of reactive oxygen species was enhanced, and mitochondrial membrane potential, mtDNA copy number and cellular oxygen consumption rate were remarkably decreased compared with wild-type cybrid cells. The homoplasmic 10003T>C mutation in the mitochondrial tRNA(Gly) gene suggested to be as a pathogenesis-related mutation which might contribute to the maternal inherited diabetes in the Han Chinese family.
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