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Vol 56(2022) N 6 p. 921-941; DOI 10.1134/S0026893322060085 Full Text

A.V. Ivanenko1, N.A. Evtushenko1, N.G. Gurskaya1*

Genome Editing in Therapy of Genodermatoses

1Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, 117997 Russia

*ngurskaya@mail.ru
Received - 2022-04-05; Revised - 2022-05-12; Accepted - 2022-05-13

This review is devoted to the prospects for the use of fundamentally important approaches and methods for the correction and therapy of genodermatoses, a group of inherited skin diseases. The greatest number of methods was applicable for the group of inherited epidermolysis bullosa. Gene replacement using viral and non-viral methods of delivery to cells has been replaced by genome editing using programmable nucleases used both in vitro and in vivo. The focus is on more widely used methods applied in vitro to various cell types. The description of the methods used is classified based on the use of DNA break repair pathways: the canonical non-homologous end-reconnection pathway-cNHEJ, and directed homologous recombination-HDR. The choice of editing strategy depends on the type of mutation causing the disease, the type of mutation inheritance, and the nucleotide environment of the mutation. Animal disease models obtained by genome editing are considered. The experience of developing methods for editing the genome and their application for the treatment of genodermatoses, previously recognized as incurable, is summarized.

genodermatoses, inherited epidermolysis bullosa, dominant mutation, recessive mutation, epidermal keratinocytes, induced pluripotent stem cells, programmable nucleases, genome editing, repair, recombination, transgenic cells, gene therapy, transplantation



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