Sep 2026· Archives of Toxicology· 0 citations· 328 references
Medicine
TL;DR
Findings support a model in which maternal aging is a driver of genome-wide instability that links aneuploidy and mutagenesis through shared defects in meiotic surveillance, declining DNA repair efficiency, and mitochondrial function.
De novo mutations are a major source of genetic variation and disease risk, yet the developmental timing and mechanisms underlying their origin require further investigation. While germ cells have traditionally been considered the primary source of these mutations, increasing evidence suggests that a substantial fracti...
M. P. Grejo, J. Augusto, Angélica C. Dos Santos et al.· Molecular human reproduction· 0 citations
The somatic mutations that arise in the brain across lifespan, the mechanisms that lead to their formation, and their potential contributions to aging and age-related disease are reviewed.
Joowon Um, Jacob W. Adelman, Elizabeth A. Pollina· Annual Review of Pathology· 0 citations
The meiotic spindle is essential for accurate chromosome segregation during oocyte maturation and fertilization, and its alteration might be considered a major contributor to age-related aneuploidy and reproductive failure. Spindle formation is inherently vulnerable to errors and contributes to the unusually high frequ...
R. Sciorio, G. Téglás, Luca Tramontano et al.· Medicina· 0 citations
This work examines puberty, a period of intense hormone-dependent proliferation that confers reproductive capacity, as a plausible but understudied window of vulnerability for accelerated mutagenesis, and reveals that somatic mutations accumulate approximately linearly with age across tissues, from a few hundred per ce...
O. Sergeyev, V. Ashapkin, D. Korostin et al.· Ageing Research Reviews· 0 citations
Meiosis is a specialized form of cell division that plays an essential role in mammalian sexual reproduction to reduce the ploidy of the developing germ cells so that each gamete transmits one copy of each chromosome to the next generation. In humans, approximately 20% of conceptions inherit the wrong number of chromos...
Mosaic aneuploidies in leukocytes are commonly detectable in aging individuals. Here, we studied inherited genetic influences on susceptibility to such aneuploidies by precisely quantifying chromosomal ploidy from whole-genome sequencing read-depth in 840,853 individuals. This approach revealed autosomal gains in ~70,0...
Yao-Qiong Si, Nolan Kamitaki, D. Tang et al.· medRxiv· 0 citations
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