Establishment of disease iPS cells and molecular analysis of age-related changes in progeroid syndrome

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Werner syndrome (WS) is a progeroid disorder caused by mutations in the WRN gene, which encodes a RecQ type DNA helicase. In order to clarify molecular mechanism of pathogenesis of WS, we gene-transferred Yamanaka's four factors, such as Oct-4, Sox2, Klf4, c-Myc, into skin fibroblasts of WS patients. We isolated iPS clone cells and confirmed them with highly proliferative ability as well as pluripotency, indicating establishment of WS iPS cells by reprogramming. Furthermore, we investigated the protective effect of read-thorough drugs on WS fibroblasts with a nonsense mutation and discussed the therapeutic potentiality of the drugs to WS.