Subjects: Biology >> Biophysics >> Cell Biology submitted time 2016-05-12
Abstract： Nuclease-based gene editing technologies have opened up opportunities for correcting human genetic diseases. For the first time, scientists achieved targeted gene editing of mitochondrial DNA in mouse oocytes fused with patient cells. This fascinating progression may encourage the development of novel therapy for human maternally inherent mitochondrial diseases.
Peer Review Status:
Awaiting Review
Subjects: Biology >> Biophysics >> Cell Biology submitted time 2016-05-05
Fu, Lina
Xu, Xiuling
Ren, Ruotong
Zhang, Weiqi
Yang, Jiping
Ren, Xiaoqing
Wang, Si
Zhao, Yang
Liu, Guang-Hui
Ren, Ruotong
Zhang, Weiqi
Liu, Guang-Hui
Qu, Jing
Wu, Jun
Belmonte, Juan Carlos Izpisua
Wu, Jun
Sun, Liang
Yang, Ze
Yu, Yang
Qiao, Jie
Abstract： Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.
Peer Review Status:Awaiting Review
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