Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9

The CRISPR/Cas9 system induces site-specific double-strand breaks (DSBs), which stimulate cellular DNA repair through either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways. The NHEJ pathway, which is activated more frequently than HR, is prone to introducing small insertions and/or deletions at the DSB site, leading to changes in the reading frame. We hypothesized that the NHEJ pathway is applicable to genetic diseases caused by a frameshift mutation through restoration of the reading frame.

Source: Journal of Investigative Dermatology - February 28, 2019 Category: Dermatology Authors: Shota Takashima, Satoru Shinkuma, Yasuyuki Fujita, Toshifumi Nomura, Hideyuki Ujiie, Ken Natsuga, Hiroaki Iwata, Hideki Nakamura, Artem Vorobyev, Riichiro Abe, Hiroshi Shimizu Tags: Original Article Source Type: research