Conclusion
Many issues in A-T research remain unresolved. However, certain common denominators are becoming clear that were not obvious just a few years ago, i.e., the relationship between double-strand break rejoining, radiosensitivity, and immunodeficiency. The downstream pathways that are activated by ATM phosphorylating p53, c-abl, chk2, Brca1, nibrin, RPA, and other proteins that contribute to cell-cycles checkpoints and DNA repair complexes, are helping to understand the cancer susceptibility of A-T patients, and perhaps of A-T heterozygotes. The identification and categorization of mutations in the ATM, NBS and Mre11 genes now allow more definitive diagnoses. Developmental studies are rapidly identifying early sites of pathogenesis that can perhaps be targeted for neural stem cell implantation therapy. If over-whelmed oxidative stress responses underlie the neurological degeneration of A-T patients, maintaining adequate therapeutic levels of free-radical scavengers, such as Vitamin E, alpha-lipoic acid, aspirin, and Coenzyme Q10, may be of some therapeutic benefit.
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Gatti, R.A., Becker-Catania, S., Chun, H.H. et al. The pathogenesis of ataxia-telangiectasia. Clinic Rev Allerg Immunol 20, 87–108 (2001). https://doi.org/10.1385/CRIAI:20:1:87
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DOI: https://doi.org/10.1385/CRIAI:20:1:87