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Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Felipe Cortés Ledesma

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Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)


Ataxia-Telangiectasia (A-T) is caused by mutations in the ATM gene, and it is the paradigm for a series of genetic human syndromes linked to signalling defects and the repair of DNA breakages. The symptoms of A-T include progressive cerebella ataxia, immunodeficiency, radiosensitivity, hypogonadism and a higher incidence of cancer. The role of ATM as the master regulator of cellular response to DNA breakage is very well defined, and it has been characterised in quite good detail. Nevertheless, its impact on the repair process has traditionally been highly controversial. Our laboratory has recently shown that ATM does play a major role in the repair of DNA breakages, but only when these contain ends that have been blocked and require processing before repair can take place. Additionally, this ATM dependent route contributes to cell survival and the maintenance of genomic stability, which suggests that blocked DNA breaks may be an important factor in the pathogenesis of the disease. This project explores this possibility in detail, determining the specific function of ATM in the repair of blocked DNA breaks, while identifying other factors that may be involved in the process.

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