Herzog K H, Chong M J, Kapsetaki M, Morgan J I, McKinnon P J
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, 332 North Lauderdale, Memphis, TN 38101, USA.
Science. 1998 May 15;280(5366):1089-91. doi: 10.1126/science.280.5366.1089.
Ataxia telangiectasia (AT) is characterized by progressive neurodegeneration that results from mutation of the ATM gene. However, neither the normal function of ATM in the nervous system nor the biological basis of the degeneration in AT is known. Resistance to apoptosis in the developing central nervous system (CNS) of Atm-/- mice was observed after ionizing radiation. This lack of death occurred in diverse regions of the CNS, including the cerebellum, which is markedly affected in AT. In wild-type, but not Atm-/- mice, up-regulation of p53 coincided with cell death, suggesting that Atm-dependent apoptosis in the CNS is mediated by p53. Further, p53 null mice showed a similar lack of radiation-induced cell death in the developing nervous system. Atm may function at a developmental survival checkpoint that serves to eliminate neurons with excessive DNA damage.
共济失调毛细血管扩张症(AT)的特征是由ATM基因突变导致的进行性神经退行性变。然而,ATM在神经系统中的正常功能以及AT中神经退行性变的生物学基础均尚不清楚。在电离辐射后,观察到Atm基因敲除小鼠发育中的中枢神经系统(CNS)对细胞凋亡具有抗性。这种细胞死亡缺失发生在CNS的不同区域,包括在AT中受到显著影响的小脑。在野生型小鼠而非Atm基因敲除小鼠中,p53的上调与细胞死亡同时出现,这表明CNS中依赖Atm的细胞凋亡是由p53介导的。此外,p53基因敲除小鼠在发育中的神经系统中也表现出类似的辐射诱导细胞死亡缺失。Atm可能在一个发育生存检查点发挥作用,该检查点用于清除具有过多DNA损伤的神经元。