2017 Jan;33:76-88. doi: 10.1016/j.arr.2016.05.002. Epub 2016 May 12.

Author information

The David and Inez Myers Laboratory for Cancer Research, Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address: yossih@post.tau.ac.il.
Division of Pediatric Allergy and Immunology, The Johns Hopkins Medical Institutions, 600 N. Wolfe Street, Baltimore, MD 21287, USA.


A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebellar atrophy, immunodeficiency, oculocutaneous telangiectasia (dilated blood vessels), vestigial thymus and gonads, endocrine abnormalities, cancer predisposition and varying sensitivity to DNA damaging agents, particularly those that induce DNA double-strand breaks. With the recent increase in life expectancy of A-T patients, the premature ageing component of this disease is gaining greater awareness. The complex A-T phenotype reflects the ever growing number of functions assigned to the protein encoded by the responsible gene - the homeostatic protein kinase, ATM. The quest to thoroughly understand the complex A-T phenotype may reveal yet elusive ATM functions.


ATM; Ageing; Ataxia-telangiectasia; DNA damage response; Protein kinase

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