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Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations

6 Aug 2025

Abstract excerpt

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...

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PMID: 40768572
DOI: 10.1126/sciadv.adw4954

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