Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing

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• 作者：Yosef Shiloh^a ; ^{yossih@post.tau.ac.il} ; Howard M. Lederman^b
• 关键词：Ataxia-telangiectasia ; ATM ; DNA damage response ; Protein kinase ; Ageing
• 刊名：Ageing Research Reviews
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：33
• 期：Complete
• 页码：76-88
• 全文大小：2626 K
• 卷排序：33

文摘

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.