Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 33, 76-88

Ataxia-telangiectasia (A-T): An Emerging Dimension of Premature Ageing


Ataxia-telangiectasia (A-T): An Emerging Dimension of Premature Ageing

Yosef Shiloh et al. Ageing Res Rev.


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.

Keywords: ATM; Ageing; Ataxia-telangiectasia; DNA damage response; Protein kinase.

Similar articles

See all similar articles

Cited by 18 PubMed Central articles

See all "Cited by" articles