study Links Increasing Paternal Age to Higher Risk of Genetic Mutations in Offspring
A new study published in Nature reveals a concerning link between increasing paternal age and a rise in genetic mutations within sperm, potentially elevating the risk of inherited diseases in children. Researchers have discovered a subtle form of natural selection occurring within the testes, leading to the prevalence of certain mutations during sperm production, beyond the typical accumulation of random DNA errors.
The research, involving 81 healthy volunteers, showed a correlation between age and the presence of mutations with potential pathogenic effects. Approximately 2% of men aged 30 years carried these mutations, compared to 3-5% of men between 43 and 74, and 4.5% in those 75 years or older. These genetic changes have been associated with severe neuronal developmental disorders,increased risk of hereditary cancer,and defects impacting fertilization and embryo development.
“Some changes in DNA not only survive, but thrive inside the testicles,” explains Professor Matt Hurles of the Wellcome Sanger Institute in the UK. This suggests that fathers who delay parenthood may unknowingly transmit harmful mutations to their children.
A complementary study, analyzing data from over 54,000 parent-child trios and approximately 800,000 healthy individuals, further supported these findings. Researchers identified over 30 genes where specific mutations appeared to give sperm a competitive advantage during cellular multiplication, a process of internal natural selection. Many of these genes were also observed directly in semen samples.
The results demonstrate that evolution can be observed in real-time within human DNA, as certain mutations are favored during sperm production. The study highlights a “hidden genetic risk” that increases with paternal age and can influence a child’s likelihood of inheriting certain genetic disorders.
The research was conducted by an international genetic team coordinated by the Sanger Welcome Institute, a world-renowned genomic research center located in Hinxton, Cambridge.Founded in the 1990s, the institute played a pivotal role in the Human Genome Project and continues to be a leader in genetics, genomics, and molecular biology, studying the impact of genetic variations on disease, evolution, and organismal development. The institute is funded by Wellcome Trust, a major philanthropic foundation dedicated to health and science.
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