[Ataxia-telangiectasia: a review]

Arch Pediatr. 2006 Mar;13(3):293-8. doi: 10.1016/j.arcped.2005.11.022. Epub 2006 Jan 19.
[Article in French]

Abstract

Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease caused by mutational inactivation of the ATM gene. It is a multisystemic disease, characterized by progressive neurological dysfunction, especially in the cerebellum, oculo-cutaneous telangiectasia, immunodeficiency, recurrent sino-pulmonary infections and high incidence of neoplasms. The responsible gene, ATM, encodes a large protein that belongs to a family of protein kinases with a phosphatidylinositol 3-kinase (Pi3K) domain. ATM is a key regulator of cell cycle checkpoints that causes DNA repair or apoptosis. Several studies report ATM function in target cells (such as neurons, fibroblast, endothelium, germ cells, lymphocytes). The pleiotropic phenotypes of AT reflect the multifaceted activities of ATM protein. In nucleus (lymphocytes, fibroblasts, germ cells) ATM is involved in regulation of cell-cycle checkpoints; in cytoplasm ATM regulates redox state (neurons).

Publication types

  • Review

MeSH terms

  • Adolescent
  • Ataxia Telangiectasia Mutated Proteins
  • Ataxia Telangiectasia* / complications
  • Ataxia Telangiectasia* / diagnosis
  • Ataxia Telangiectasia* / genetics
  • Ataxia Telangiectasia* / immunology
  • Ataxia Telangiectasia* / physiopathology
  • Ataxia Telangiectasia* / therapy
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / physiology
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / physiology
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mutation
  • Phenotype
  • Prognosis
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / physiology
  • Risk Factors
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / physiology

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases