Ataxia telangiectasia syndrome: moonlighting ATM

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 chara...

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Published inExpert review of clinical immunology Vol. 13; no. 12; p. 1155
Main Authors Zaki-Dizaji, Majid, Akrami, Seyed Mohammad, Abolhassani, Hassan, Rezaei, Nima, Aghamohammadi, Asghar
Format Journal Article
LanguageEnglish
Published England 02.12.2017
Subjects
Ataxia Telangiectasia - genetics
Ataxia Telangiectasia Mutated Proteins - genetics
DNA Repair
Humans
Mutation - genetics
Oxidative Stress
Phenotype
Signal Transduction
neurodegeneration
Ataxia telangiectasia
cancer
immunodeficiency
ATM gene
DNA repair
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Summary: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.
ISSN:1744-8409
DOI:10.1080/1744666X.2017.1392856