(ANSA) – ROME, 19 AUG – The new mutations that cause numerous genetic diseases are transmitted mainly through the father. Not only that: the risk increases with age because the cells that give rise to spermatozoa (spermatogonia), and which contain these mutations, replicate throughout life, progressively increasing in number. Furthermore, the cells carrying the mutated gene replicate more than healthy cells, thus increasing the risk of transmitting a rare disease to one’s children.
The molecular mechanism underlying this process was discovered in a joint study by the Bambino Gesù Children’s Hospital and the University of Oxford, published in the American Journal of Human Genetics.
“Genetic diseases – the researchers explain – are caused by mutations that can affect one or more genes. They can be inherited from one or both parents or appear spontaneously during the DNA replication process directly in the cells of the embryo”.
Inherited mutations, in turn, can come from the original genetic makeup of one or both parents or can arise de novo in paternal and maternal germline stem cells.
The study examined samples from 18 patients diagnosed with Myhre syndrome (a rare genetic disease caused by mutations in the SMAD4 gene that arises de novo in spermatogonia) from their parents and anonymous donors aged between 24 and 75. The personal data of 35 families of American patients with Myhre syndrome were also analyzed. Researchers from the MRC Weatherall Institute of Molecular Medicine at the University of Oxford have highlighted how these mutations proliferate more than healthy cells with a process in some ways similar to that observed in cancer cells and the risk increases with increasing paternal age.
“These are significant results for the important implications in the field of genetic counseling and calculation of reproductive risk – concludes Marco Tartaglia, head of the Molecular Genetics and Functional Genomics Unit at Bambino Geù Hospital -. This discovery suggests that, as paternal age increases, more molecular mechanisms can contribute to increasing the probability of transmission to the unborn child of a mutated gene potentially causing disease”.
(ANSA).
2024-08-19 10:52:29