ArticlePloS one2011
A twin study of mitochondrial DNA polymorphisms shows that heteroplasmy at multiple sites is associated with mtDNA variant 16093 but not with zygosity.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- Exploring mitochondrial heteroplasmy in neonates: implications for growth patterns and overweight in the first years of life.International journal of obesity (2005) · 2024Article
- In utero particulate matter exposure in association with newborn mitochondrial ND4LEnvironmental health : a global access science source · 2022Article
- Combining CDKN1A gene expression and genome-wide SNPs in a twin cohort to gain insight into the heritability of individual radiosensitivity.Functional & integrative genomics · 2019Article
- Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.Genome research · 2016Article
- Analysis of mixtures using next generation sequencing of mitochondrial DNA hypervariable regions.Croatian medical journal · 2015Article
- Improved age determination of blood and teeth samples using a selected set of DNA methylation markers.Epigenetics · 2015Article
- Intra-Monozygotic Twin Pair Discordance and Longitudinal Variation of Whole-Genome Scale DNA Methylation in Adults.PloS one · 2015Article
- Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual.Current genetics · 2014Article
- Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.JAMA neurology · 2013Article
- Mitochondrial DNA mutation load: chance or destiny?JAMA neurology · 2013Article
- Recurrent tissue-specific mtDNA mutations are common in humans.PLoS genetics · 2013Article
- Omics technologies and the study of human ageing.Nature reviews. Genetics · 2013Review
- Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.Human molecular genetics · 2012Article
- Sequence-based polymorphisms in the mitochondrial D-loop and potential SNP predictors for chronic dialysis.PloS one · 2012Article
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9 authors.
Funding
Abstract
The mitochondrial theory of ageing proposes that damage to mitochondria and diminished mitochondrial DNA (mtDNA) repair are major contributors to cellular dysfunction and age-related diseases. We investigate the prevalence of heteroplasmy in the mtDNA control region in buccal swab and blood derived samples for 178 women from the TwinsUK cohort (41 DZ pair 39 MZ pairs, 18 singletons, mean age 57.5 range 28-82) and its relationship to age, BMI and fasting insulin and glucose serum levels. The overall estimated prevalence of heteroplasmy for both tissues in the control region measured for 37 sites was 17%. The prevalence of heteroplasmy was higher among the older half of the study subjects than in the younger half (23% vs 10% p<0.03), primarily reflecting the increase in the prevalence of a heteroplasmic dinucleotide CA repeat in variable region II (VRII) with age. The VRII 523-524 heteroplasmic site (heteroplasmic in 25 subjects) was also associated with a decrease in BMI. In addition, concordance rates for common heteroplasmy were observed to be near complete for both dizygotic (DZ = 94%) and monozygotic twin pairs (MZ = 100%), consistent with previous reports that suggest variation in heteroplasmy rates between generations are determined by bottlenecks in maternal transmission of mitochondria. Differences in the prevalence of heteroplasmy were observed overall between samples derived from buccal swabs (19%) and blood (15%, p<0.04). These were particularly marked at position 16093 of hypervariable region I (HVI, 7% vs 0%, respectively, p<4×10(-11)). The presence of the C allele at position 16093 in blood was associated with the presence of heteroplasmy in buccal swabs at this position (p = 3.5×10(-14)) and also at VRII (p = 2×10(-4)) suggesting a possible predisposing role for this site in the accumulation of heteroplasmy. Our data indicate that BMI is potentially associated with control region heteroplasmy.
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