ArticleIrish journal of medical science2022
Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.
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 9 papers.
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9 citing papers in PubMed, 13 citations in OpenAlex.
- Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort.Molecular biology reports · 2025Article
- A non-invasive method for screening mitochondrial diabetes.Frontiers in genetics · 2025Article
- Mitochondrial complex I subunitHeliyon · 2024Review
- Identification of eight genomic protective alleles for mitochondrial diabetes by Kinship-graph convolutional network.Journal of diabetes investigation · 2024Article
- Mitochondrial Diabetes Is Associated with theBiomolecules · 2023Article
- Mitochondrial DNA abnormalities and metabolic syndrome.Frontiers in cell and developmental biology · 2023Review
- Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.Life (Basel, Switzerland) · 2022Article
- Late onset of type 2 diabetes is associated with mitochondrial tRNAJournal of clinical laboratory analysis · 2022Article
- Mitochondrial Diabetes is Associated with tRNADiabetes, metabolic syndrome and obesity : targets and therapy · 2022Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundMutations in mitochondrial DNA (mtDNA) are found to be associated with type 2 diabetes mellitus (T2DM). However, the molecular pathogenesis of these mutations in T2DM is still poorly understood.
methodsIn this study, we report here the molecular features of two Han Chinese families with maternally transmitted T2DM. The matrilineal relatives are undergoing clinical, biochemical, genetic evaluations, and molecular analysis. Furthermore, the entire mitochondrial genomes of these matrilineal relatives are screened by PCR-Sanger sequencing.
resultsThe age at onset of T2DM of these participants varies from 28 to 71 years, with an average of 43 years. Molecular analysis of mitochondrial genomes identifies the existence of ND1 T3394C mutation in both families, together with sets of variants belonging to mitochondrial haplogroup Y2 and M9a. The m.T3394C mutation is localized at very conserved tyrosine at position 30 of ND1, may result the failure in ND1 mRNA metabolism, and lead to mitochondrial dysfunction. Moreover, sequence analysis of matrilineal relatives in Family 1 identifies the m.A14693G mutation which occurs in the TΨC-loop of tRNA
conclusionsOur study indicates that mitochondrial ND1 T3394C mutation is involved in the pathogenesis of maternally inherited T2DM in these families.
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