ArticleBioscience reports2020
Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.
Article in Bioscience reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Mitochondrial DNA abnormalities and metabolic syndrome.Frontiers in cell and developmental biology · 2023Review
- Novel m.4268T>C mutation in the mitochondrial tRNAWorld journal of clinical cases · 2022Article
- Weight Change Alters the Small RNA Profile of Urinary Extracellular Vesicles in Obesity.Obesity facts · 2022Article
- Mitochondrial haplogroup J associated with higher risk of obesity in the Qatari population.Scientific reports · 2021Article
- Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing.Frontiers in neurology · 2021Article
- Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method.Bioscience reports · 2020Article
- Reply to comments on: "Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family".Bioscience reports · 2020Article
- Letter to the Editor: Comments on "Obesity associated with a novel mitochondrial tRNACys m.5802A>G mutation in a Chinese family".Bioscience reports · 2020Article
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
A Chinese family with matrilineally inherited obesity was assessed and its clinical, genetic, and molecular profiling was conducted. Obesity was observed in matrilineal relatives (3 out of 7) of a single generation (of 3 alive generations) in this family. On pedigree analysis and sequencing of their mitochondrial DNA (mtDNA), a novel homoplasmic mutation of the mitochondrial tRNACys gene (5802A>G) was identified in these individuals. This mutation correlated with a destabilized conserved base pair in this tRNA anticodon stem. Position 30 is known to be crucial for carrying out effective codon recognition and stability of tRNA. In accordance with the importance of this conserved site, we observed that the predicted structure of tRNACys with the mutation was noticeably remodeled in a molecular dynamics simulation when compared with the isoform of the wild-type. All other 46 mutations observed in the individual's mtDNA were known variants belonging to haplogroup D4. Thus, this is the first report that provides evidence of the association between a mutation in tRNA and an enhanced risk of maternally transmissible obesity, offering more insights into obesity and its underlying nature.
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