The ATM gene and ataxia telangiectasia.
Ataxia telangiectasia (AT) is a rare neurodegenerative, autosomal recessive disorder characterized by chromosome instability, radiosensitivity, immunodeficiency and a predisposition for cancer. Epidemiological studies have shown that AT heterozygotes have a predisposition for cancer, especially for breast cancer in women. The disease is caused by mutations in the ATM gene, leading to total loss of the ATM protein, which normally recognizes DNA damage, activates the DNA repair machinery and the cell cycle check points in order to minimize the risk of genetic damage. This review summarizes the clinical features of AT and the natural history of the disease and puts recent molecular advances into the context of the cellular and clinical phenotype.
Mavrou
Ariadni
A
Department of Medical Genetics, Athens University School of Medicine, "Aghia Sofia" Childrens' Hospital, Thivon and Levadias, 115 27 Athens, Greece. ariamav@hol.gr
Tsangaris
George Th
GT
Roma
Eleftheria
E
Kolialexi
Aggeliki
A
D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
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