Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability
Yoshihiro Fukawatase1, Masashi Toyoda2, Kohji Okamura3
11] 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.
Abstract:
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.
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