ArticleHuman genomics2023
Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes.
Article in Human genomics, 2023. 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.
- Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers.Orphanet journal of rare diseases · 2026Article
- Individual and joint association of maternal and cord blood mitochondrial DNA heteroplasmy and copy number with preterm birth.Pediatric research · 2026Article
- Intergenerational and organ-specific alterations in mitochondrial DNA copy number following preconception irradiation.Redox biology · 2026Article
- Cord Blood Mitochondrial DNA Copy Number and Physical Growth in Infancy and Toddlerhood: A Birth Cohort Analysis.Children (Basel, Switzerland) · 2025Article
- Cell cycle- and dose-dependent effects on mitochondrial DNA copy number variation following irradiation.Journal of cell science · 2025Article
- Functional analysis of the novel mitochondrial tRNAWorld journal of diabetes · 2024Article
- Maternal mitochondrial DNA copy number and methylation as possible predictors of pregnancy outcomes in a Michigan pregnancy cohort.Environmental epigenetics · 2024Article
- Bioenergetic signatures of neurodevelopmental regression.Frontiers in physiology · 2024Article
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Authors and funding
2 authors.
Funding
Abstract
backgroundMitochondria have their own circular multi-copy genome (mtDNA), and abnormalities in the copy number are implicated in mitochondrial dysfunction, which contributes to a variety of aging-related pathologies. However, not much is known about the genetic correlation of mtDNA copy number across multiple generations and its physiological significance.
methodsWe measured the mtDNA copy number in cord blood or peripheral blood from 149 three-generation families, specifically the newborns, parents, and grandparents, of 149 families, totaling 1041 individuals. All of the biological specimens and information were provided by the Tohoku Medical Megabank Project in Japan. We also analyzed their maternal factors during pregnancy and neonatal outcomes.
resultsWhile the maternal peripheral blood mtDNA copy number was lower than that of other adult family members, it was negatively correlated with cord blood mtDNA copy number in male infants. Also, cord blood mtDNA copy numbers were negatively correlated with perinatal outcomes, such as gestation age, birth weight, and umbilical cord length, for both male and female neonates. Furthermore, the mtDNA copy number in the infants born to mothers who took folic acid supplements during pregnancy would be lower than in the infants born to mothers who did not take them.
conclusionsThis data-driven study offers the most comprehensive view to date on the genetic and physiological significance of mtDNA copy number in cord blood or peripheral blood taken from three generations, totaling more than 1000 individuals. Our findings indicate that mtDNA copy number would be one of the transgenerational biomarkers for assessing perinatal outcomes, as well as that appropriate medical interventions could improve the outcomes via quantitative changes in mtDNA.
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