Tsitologiya  2014  56 (8) : 619–629

MOSAIC FORMS OF ATAXIA-TELANGIECTASIA M.L. Kuranova,1,2 N.M. Pleskach,2 T.A. Ledacheva,4 V.M. Mikhelson,2 I.M. Spivak 1-3 1 National Research University of St. Petersburg State Polytechnical University, 2 Institute of Cytology RAS, St. Petersburg, 3 St. Petersburg State University and 4 St. Petersburg Diagnostic (Medico-Genetical) Center; 1 e-mail: miryakuranova@gmail.com Аtaxia-telangiectasia (AT) is a severe hereditary autosomal recessive neurodegenerative disease associated with accelerated aging and caused by mutation in both alleles of atm gene. This gene encodes a key protein of cell response to DNA damage—an ATM protein kinase. Normally, upon formation of DNA double strand breaks ATM is autophosphorylated and its active form phospho-ATM (P-ATM) appears. Here we describe a mosaic form of AT in which cells of the same patient with normal atm gene demonstrated the accumulation of P-ATM in response to DNA double-strand breaks-inducing factors whereas in cells bearing a mutant form of atm P-ATM was not detected. The epigenetic markers such as histone deacetylases SIRT1 and SIRT6, and trimethylated forms of histone H3 — H3K9me3 and H3K27me3 — were studied in the nuclei of primary fibroblasts derived from patients with different forms of AT and the increase of SIRT6 level was revealed. Key words:  ataxia-telangiectasia, histone deacetylases SIRT1 and SIRT6, trimethylated forms of histone H3 — H3K9me3 and H3K27me3 |  Back   |  Contents   |  Main  |