title: Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
abstract: 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.
authors.affiliation: 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.
authors.forename: Yosef
authors.initials: Y
authors.lastname: Shiloh
authors.affiliation: Division of Pediatric Allergy and Immunology, The Johns Hopkins Medical Institutions, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
authors.forename: Howard M
authors.initials: HM
authors.lastname: Lederman
mesh_terms: D019588:Aging, Premature / Q000235:genetics / Q000503:physiopathology; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D004249:DNA Damage; D042822:Genomic Instability; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D063189:Symptom Assessment
chemical_list: D018797:Cell Cycle Proteins; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases
keywords: ATM; Ageing; Ataxia-telangiectasia; DNA damage response; Protein kinase