Diagnostics of ataxia-telangiectasia by an express test based on the indirect immunofluorescence method.

Autor: Kuranova, M., Ledashcheva, T., Tulush, E., Belyaev, D., Zherebtsov, S., Pleskach, N., Prokofieva, V., Mikhelson, V., Spivak, I.
Zdroj: Cell & Tissue Biology; Jan2014, Vol. 8 Issue 1, p91-96, 6p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: