Down syndrome, also known as Trisomy 21, is associated, albeit with varying severity, with intellectual disability, premature aging, propensity to develop a disease similar to Alzheimer's, and the onset of some types of leukemia. Several studies have associated this phenotype with increased oxidative stress.
A research conducted by a team of IGM researchers coordinated by Ennio Prosperi, in collaboration with the Department of Pharmaceutical Sciences of the University of Pavia, have shown that fibroblasts (fetal and adult) obtained from Down's patients are more susceptible to oxidative stress and show, already in basal conditions, the activation of surveillance mechanisms of the genome integrity. In addition, the results showed that Down fibroblasts possess a reduced reparative ability of the oxidative damage to DNA, in conjunction with an abnormal accumulation of DNA repair factors. Finally, the study indicated that these are intrinsic characteristics of Down's cells, because such defects are already present in fetal fibroblasts, as well as in those obtained from adult patients.
These information suggest the need for greater protection from exposure to risk factors (in particular genotoxic agents), not only of patients but also of future mothers with ascertained diagnosis, in order to reduce the occurrence of diseases related to oxidative damage and associated with Down syndrome.
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