Ataxia telangiectasia syndrome: moonlighting ATM

Expert Rev Clin Immunol. 2017 Dec;13(12):1155-1172. doi: 10.1080/1744666X.2017.1392856. Epub 2017 Oct 20.


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.

Keywords: ATM gene; Ataxia telangiectasia; DNA repair; cancer; immunodeficiency; neurodegeneration.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • DNA Repair
  • Humans
  • Mutation / genetics*
  • Oxidative Stress
  • Phenotype
  • Signal Transduction


  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins