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

Yosef Shiloh, Howard M Lederman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalAgeing Research Reviews
DOIs
StateAccepted/In press - Apr 1 2016

Keywords

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

ASJC Scopus subject areas

  • Aging
  • Biochemistry
  • Biotechnology
  • Molecular Biology
  • Neurology

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