ArticleHuman molecular genetics2012
Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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51 citing papers in PubMed, 98 citations in OpenAlex.
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- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- Aberrant fragmentomic features of circulating cell-free mitochondrial DNA as novel biomarkers for multi-cancer detection.EMBO molecular medicine · 2024Article
- Exploring mitochondrial heteroplasmy in neonates: implications for growth patterns and overweight in the first years of life.International journal of obesity (2005) · 2024Article
- Vitamin B12 status and folic acid supplementation influence mitochondrial heteroplasmy levels in mice.PNAS nexus · 2024Article
- mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes.Current issues in molecular biology · 2023Article
- Mitochondrial genome study in blood of maternally inherited ALS cases.Human genomics · 2023Article
- Mitochondrial Diabetes Is Associated with theBiomolecules · 2023Article
- High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Role of mitochondrial DNA in diabetes Mellitus Type I and Type II.Saudi journal of biological sciences · 2022Review
- Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing.Communications biology · 2022Article
- In utero particulate matter exposure in association with newborn mitochondrial ND4LEnvironmental health : a global access science source · 2022Article
- Identification of Somatic Mitochondrial DNA Mutations, Heteroplasmy, and Increased Levels of Catenanes in Tumor Specimens Obtained from Three Endometrial Cancer Patients.Life (Basel, Switzerland) · 2022Article
- Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.Irish journal of medical science · 2022Article
- Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness.BMC biology · 2022Article
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- The Role of Mitochondrial Mutations and Chronic Inflammation in Diabetes.International journal of molecular sciences · 2021Review
- Age-induced mitochondrial DNA point mutations are inadequate to alter metabolic homeostasis in response to nutrient challenge.Aging cell · 2020Article
- Possible Role of Mitochondrial DNA Mutations in Chronification of Inflammation: Focus on Atherosclerosis.Journal of clinical medicine · 2020Review
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heteroplasmy, the mixture of mitochondrial genomes (mtDNA), varies among individuals and cells. Heteroplasmy levels alter the penetrance of pathological mtDNA mutations, and the susceptibility to age-related diseases such as Parkinson's disease. Although mitochondrial dysfunction occurs in age-related type 2 diabetes mellitus (T2DM), the involvement of heteroplasmy in diabetes is unclear. We hypothesized that the heteroplasmic mutational (HM) pattern may change in T2DM. To test this, we used next-generation sequencing, i.e. massive parallel sequencing (MPS), along with PCR-cloning-Sanger sequencing to analyze HM in blood and skeletal muscle DNA samples from monozygotic (MZ) twins either concordant or discordant for T2DM. Great variability was identified in the repertoires and amounts of HMs among individuals, with a tendency towards more mutations in skeletal muscle than in blood. Whereas many HMs were unique, many were either shared among twin pairs or among tissues of the same individual, regardless of their prevalence. This suggested a heritable influence on even low abundance HMs. We found no clear differences between T2DM and controls. However, we found ~5-fold increase of HMs in non-coding sequences implying the influence of negative selection (P < 0.001). This negative selection was evident both in moderate to highly abundant heteroplasmy (>5% of the molecules per sample) and in low abundance heteroplasmy (<5% of the molecules). Although our study found no evidence supporting the involvement of HMs in the etiology of T2DM, the twin study found clear evidence of a heritable influence on the accumulation of HMs as well as the signatures of selection in heteroplasmic mutations.
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