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

Yosef Shiloh, Howard M. Lederman

Research output: Contribution to journalReview articlepeer-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)
Pages (from-to)76-88
Number of pages13
JournalAgeing Research Reviews
Volume33
DOIs
StatePublished - Jan 1 2017

Keywords

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

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Aging
  • Molecular Biology
  • Neurology

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