ArticleIrish journal of medical science2022
Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA
Article in Irish journal of medical science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Connecting the Dots: Mitochondrial Dysfunction, PCOS, and Insulin Resistance-Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus.Molecular genetics and metabolism reports · 2025Review
- Functional analysis of the novel mitochondrial tRNAWorld journal of diabetes · 2024Article
- Identification of a Novel Mitochondrial tRNA Mutation in Chinese Family with Type 2 Diabetes Mellitus.Pharmacogenomics and personalized medicine · 2024Article
- Potential Roles of mtDNA Mutations in PCOS-IR: A Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMutations/variants in mitochondrial genomes are found to be associated with type 2 diabetes mellitus (T2DM), but the pathophysiology of this disease remains largely unknown.
aimThe aim of this study is to investigate the relationship between mitochondrial DNA (mtDNA) variants and T2DM. METHODOLOGY: A maternally inherited T2DM pedigree is underwent clinical, genetic, and molecular assessment. Moreover, the complete mitochondrial genomes of the matrilineal relatives of this family are PCR amplified and sequenced. We also utilize the phylogenetic conservation analysis, haplogroup classification, and the pathogenicity scoring system to determine the T2DM-associated potential pathogenic mtDNA variants.
resultFour of seven matrilineal relatives of this pedigree suffered from T2DM with variable ages of onset. Screening for the entire mtDNA genes of matrilineal members reveals co-existence of ND5 T12338C and tRNA
conclusionsThe co-occurrence of ND5 T12338C and tRNA
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