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Ataxia Telangiectasia Syndrome: Moonlighting Atm Publisher Pubmed



Zakidizaji M1, 2 ; Akrami SM1 ; Abolhassani H2, 3, 4 ; Rezaei N2, 5, 6 ; Aghamohammadi A2
Authors
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Authors Affiliations
  1. 1. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
  3. 3. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
  4. 4. Primary Immunodeficiency Diseases Network (PIDNet, Universal Scientific Education and Research Network (USERN), Stockholm, Sweden
  5. 5. Department of Immunology and Biology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

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.
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