2025-09-23 ペンシルベニア州立大学(PennState)
<関連情報>
- https://www.psu.edu/news/research/story/brief-certain-age-related-dna-mutations-are-less-common-human-eggs
- https://www.science.org/doi/10.1126/sciadv.adw4954
対立遺伝子頻度選択とヒト卵子ミトコンドリア変異の加齢に伴う増加なし Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations
Barbara Arbeithuber, Kate Anthony, Bonnie Higgins, Peter Oppelt, […] , and Kateryna D. Makova
Science Advances Published:6 Aug 2025
DOI:https://doi.org/10.1126/sciadv.adw4954
Abstract
Mitochondria, cellular powerhouses, harbor DNA [mitochondrial DNA (mtDNA)] inherited from the mothers. mtDNA mutations can cause diseases, yet whether they increase with age in human oocytes remains understudied. Here, using highly accurate duplex sequencing, we detected de novo mutations in single oocytes, blood, and saliva in women 20 to 42 years of age. We found that, with age, mutations increased in blood and saliva but not in oocytes. In oocytes, mutations with high allele frequencies were less prevalent in coding than noncoding regions, whereas mutations with low allele frequencies were more uniformly distributed along the mtDNA, suggesting frequency-dependent purifying selection. Thus, mtDNA in human oocytes is protected against accumulation of mutations with aging and having functional consequences. These findings are particularly timely as humans tend to reproduce later in life.
