Ataxia Telangiectasia Syndrome: Moonlighting Atm Publisher Pubmed



Zakidizaji M^{1, 2} ; Akrami SM¹ ; Abolhassani H^{2, 3, 4} ; Rezaei N^{2, 5, 6} ; Aghamohammadi A²
Source: Expert Review of Clinical Immunology Published:2017

Abstract

Introduction: Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. Identification of the gene defective in this syndrome, ataxia-telangiectasia mutated gene (ATM), and further characterization of the disorder together with a greater insight into the function of the ATM protein have expanded our knowledge about the molecular pathogenesis of this disease. Area covered: In this review, we have attempted to summarize the different roles of ATM signaling that have provided new insights into the diverse clinical phenotypes exhibited by A-T patients. Expert commentary: ATM, in addition to DNA repair response, is involved in many cytoplasmic roles that explain diverse phenotypes of A-T patients. It seems accumulation of DNA damage, persistent DNA damage response signaling, and chronic oxidative stress are the main players in the pathogenesis of this disease. © 2017 Informa UK Limited, trading as Taylor & Francis Group.