Research projects
Start of main content
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
Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)
Abstract
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.
-
Activities related
-
Projects related
-
News related
-
Publications related
-
30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
-
8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
-
23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair 2018 Senior Researcher : Pablo Huertas Sánchez Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
- The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development 2020 Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
End of main content