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Diagnostics of ataxia-telangiectasia by an express test based on the indirect immunofluorescence method |
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| Authors: | M L Kuranova T A Ledashcheva E K Tulush D L Belyaev S V Zherebtsov N M Pleskach V V Prokofieva V M Mikhelson I M Spivak |
| Institution: | 1. Institute of Cytology, Russian Academy of Sciences, St. Petersburg, Russia 4. St. Petersburg State Polytechnic University, St. Petersburg, Russia 2. St. Petersburg Diagnostic (Medico-Genetical) Center, St. Petersburg, Russia 3. St. Petersburg State University, St. Petersburg, Russia |
| Abstract: | Ataxia-telangiectasia (AT) is a severe hereditary neurodegenerative disease developing in the presence of mutations in both alleles of the gene atm. This gene encodes the key protein of cell response to DNA damage—ATM protein kinase. During the appearance of double-strand DNA breaks, the ATM protein kinase is autophosphorylated and its active form appears in the cell—phospho-ATM (P-ATM)—revealed by a modified method of indirect immunofluorescence. In nuclei of cells containing the normal gene atm, after the effect of agents producing double-strand DNA breaks, P-ATM is detected, whereas in the cells carrying mutant variants of the gene atm P-ATM is not found. This peculiarity can be used in clinics for confirmation of diagnosis of AT in complicated cases. |
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