Peretz S, Jensen R, Baserga R, Glazer P M
Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520-8040, USA.
Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):1676-81. doi: 10.1073/pnas.98.4.1676. Epub 2001 Feb 6.
The ATM gene is mutated in the syndrome of ataxia telangiectasia (AT), associated with neurologic dysfunction, growth abnormalities, and extreme radiosensitivity. Insulin-like growth factor-I receptor (IGF-IR) is a cell surface receptor with tyrosine kinase activity that can mediate mitogenesis, cell transformation, and inhibition of apoptosis. We report here that AT cells express low levels of IGF-IR and show decreased IGF-IR promoter activity compared with wild-type cells. Complementation of AT cells with the ATM cDNA results in increased IGF-IR promoter activity and elevated IGF-IR levels, whereas expression in wild-type cells of a dominant negative fragment of ATM specifically reduces IGF-IR expression, results consistent with a role for ATM in regulating IGF-IR expression at the level of transcription. When expression of IGF-IR cDNA is forced in AT cells via a heterologous viral promoter, near normal radioresistance is conferred on the cells. Conversely, in ATM cells complemented with the ATM cDNA, specific inhibition of the IGF-IR pathway prevents correction of the radiosensitivity. Taken together, these results establish a fundamental link between ATM function and IGF-IR expression and suggest that reduced expression of IGF-IR contributes to the radiosensitivity of AT cells. In addition, because IGF-I plays a major role in human growth and metabolism and serves as a survival and differentiation factor for developing neuronal tissue, these results may provide a basis for understanding other aspects of the AT syndrome, including the growth abnormalities, insulin resistance, and neurodegeneration.
共济失调毛细血管扩张症(AT)综合征中ATM基因发生突变,该综合征与神经功能障碍、生长异常以及极高的放射敏感性相关。胰岛素样生长因子-I受体(IGF-IR)是一种具有酪氨酸激酶活性的细胞表面受体,可介导有丝分裂、细胞转化及抑制细胞凋亡。我们在此报告,与野生型细胞相比,AT细胞中IGF-IR表达水平较低,且IGF-IR启动子活性降低。用ATM cDNA对AT细胞进行互补可导致IGF-IR启动子活性增加及IGF-IR水平升高,而在野生型细胞中表达ATM的显性负性片段则特异性降低IGF-IR表达,这些结果与ATM在转录水平调节IGF-IR表达的作用一致。当通过异源病毒启动子在AT细胞中强制表达IGF-IR cDNA时,细胞获得接近正常的放射抗性。相反,在用ATM cDNA互补的ATM细胞中,对IGF-IR途径的特异性抑制可阻止放射敏感性的纠正。综上所述,这些结果建立了ATM功能与IGF-IR表达之间的基本联系,并表明IGF-IR表达降低导致AT细胞的放射敏感性。此外,由于IGF-I在人类生长和代谢中起主要作用,并作为发育中神经组织的存活和分化因子,这些结果可能为理解AT综合征的其他方面提供基础,包括生长异常、胰岛素抵抗和神经退行性变。