A study financed by Telethon and conduct IFOM, Milan sheds light on the main risk associated with this genetic disease.
Unveiling the mechanisms of tumor formation in patients with ataxia telangiectasia (AT) and related conditions: announces a study financed by Telethon and conducted by Marco Foiani, scientific director of ‘The FIRC Institute of Molecular Oncology’ (IFOM), Milan. Published in the journal Cell – which has also earned the cover – the work was conducted in collaboration with the University of Milan, thanks to funding from the Italian Association for Cancer Research (AIRC), the European Community, Ministry of Health and the Fondazione Cariplo.
Ataxia telangiectasia is a hereditary disease characterized by the combination of a progressive ataxia (loss of coordination of movements) and a severe immunodeficiency.


Affected individuals are therefore particularly prone to develop recurrent infections and tumors (especially leukemias and lymphomas), which reduce high expectations and quality of life. The disease is caused by a defect in the ATM gene, involved in the mechanisms of DNA repair. In fact, the cells of our body are continually meeting at DNA breaks, but thanks to some genes responsible interception of this damage is able to trigger appropriate repair mechanisms. ATM is one of these key genes, which is why its absence increases the risk of developing cancer, from 100 to 1000 times more normal. Until now, however, it was not clear how it happened the regenerative process and, consequently, how we can prevent and combat it.


The group of Marco Foiani was able to analyze in detail how our cells react to the lack of remedial proteins activated by the ATM gene. “When ATM, or proteins regulated by it, do not work – says Foiani – the DNA is no longer able to repair the breaks, thus triggering the formation of tumors. “Crucial to achieving this observation was the particular experimental approach used:” We were able to analyze a single DNA breakage, “says Ylli Doksani, first author of discovery “by providing a point and a definite moment when physical observations and then induce repair mechanisms during replication of chromosomes, the most delicate phase. The team of scientists dell’IFOM therefore addressed the focus of research on a break DNA isolated to investigate the mechanisms that are at the origins of gnomic instability and therefore to the possible occurrence of cancer.
The research opens up interesting perspectives in terms of diagnosis and therapy. “We will try to develop early detection methods,” says Foiani, “examining the set of genes involved in developing genetic tests specifically to cases in which familiarity is present in the AT syndrome and some lesser-known variants, such as Ataxia-Telangiectasia Like Disorder (ATLD). On the therapeutic objective will be that of developing personalized care, identifying new therapeutic targets against which to direct specific drugs in cancer therapies of the future.

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