Generation of gene therapy method for ataxia-telangiectasia using a human artificial chromosome

为了构建共济失调毛细血管扩张症(AT)的基因治疗载体，我们构建了含有ATM基因的新型人类人工染色体(HAC)，该基因在共济失调毛细血管扩张症(AT)患者中发生突变。将ATM-HAC导入1例AT患者的ATM缺陷细胞系。ATM-HAC的引入补充了ATM缺乏的基因调控和辐射敏感性的表型。此外，ATM-HAC在细胞系中保持稳定。因此，ATM-HAc载体可用于AT的基因治疗。

To generate gene therapy vector for ataxia telangiectasia (AT), we constructed novel human artificial chromosome (HAC) containing ATM gene, which is mutated in ataxia telangiectasia (AT) patients. The ATM-HAC were transferred into ATM-deficient cell line derived from a AT patient. The ATM-deficient phenotypes of gene regulation and radiation sensitivity were complemented by introducing the ATM-HAC. Furthermore, the ATM-HAC was stably maintained in the cell lines. Thus, the ATM-HAC vector will be useful for gene therapy of AT.