Fukawatase Yoshihiro, Toyoda Masashi, Okamura Kohji, Nakamura Ken-ichi, Nakabayashi Kazuhiko, Takada Shuji, Yamazaki-Inoue Mayu, Masuda Akira, Nasu Michiyo, Hata Kenichiro, Hanaoka Kazunori, Higuchi Akon, Takubo Kaiyo, Umezawa Akihiro
1] Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan [2] School of BioMedical Science, Tokyo Medical and Dental University, Tokyo, 113-0034, Japan.
1] Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan [2] Department of Research Team for Geriatric Medicine, Tokyo Metropolitan Institute of Gerontology, Tokyo, 173-0015, Japan.
Sci Rep. 2014 Jun 27;4:5421. doi: 10.1038/srep05421.
Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal instability and hypersensitivity to ionizing radiation. iPS cells lacking ATM (AT-iPS cells) exhibited hypersensitivity to X-ray irradiation, one of the characteristics of the disease. While parental ataxia telangiectasia cells exhibited significant chromosomal abnormalities, AT-iPS cells did not show any chromosomal instability in vitro for at least 80 passages (560 days). Whole exome analysis also showed a comparable nucleotide substitution rate in AT-iPS cells. Taken together, these data show that ATM is involved in protection from irradiation-induced cell death.
共济失调毛细血管扩张症是一种具有染色体不稳定和对电离辐射高度敏感的神经退行性遗传病。缺乏ATM的诱导多能干细胞（AT-iPS细胞）对X射线照射表现出高度敏感性，这是该疾病的特征之一。虽然亲代共济失调毛细血管扩张症细胞表现出明显的染色体异常，但AT-iPS细胞在体外至少传代80次（560天）均未显示出任何染色体不稳定。全外显子组分析还显示AT-iPS细胞中的核苷酸替换率相当。综上所述，这些数据表明ATM参与了对辐射诱导的细胞死亡的保护作用。
