[Ataxia-telangiectasia: a review].
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).
Bott
L
L
Service de Pédiatrie, Centre Hospitalier de Lens, France. lebreton.bott@cegetel.net
Thumerelle
C
C
Cuvellier
J C
JC
Deschildre
A
A
Vallée
L
L
Sardet
A
A
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000503:physiopathology / Q000628:therapy; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000502:physiology; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases