Describing the effectiveness of genomic editing in cells of cystic fibrosis patients

Development of genome editing methods created new opportunities for the development of etiology-based therapies of hereditary diseases. The publication by the FSBI RCMG researchers demonstrated that CRISPR/Cas9 could correct p.F508del mutation in the CFTR gene in the CFTE29o- cells (immortalized tracheal epithelial line of a cystic fibrosis patient) and induced pluripotent stem cells (iPSCs) derived from CF patients. The best homology-directed repair (HDR) frequency in the endogenous CFTR locus was 1.42% of alleles, i.e. approx. 3% of cells. The best HDR efficacy was 2.38% of alleles. The study shows that it is necessary to carry out further research aimed at increasing the efficiency of delivery of CRISPR-Cas9 components into cells, which, ultimately, will increase the efficiency of editing the F508del mutation in the CFTR gene.

Smirnikhina SA, Kondrateva EV, Adilgereeva EP, Anuchina AA, Zaynitdinova MI, Slesarenko YaS., Ershova AS, Ustinov KD, Yasinovsky MI, Amelina EL, Voronina ES, Yakushina VD, Tabakov VYu, Lavrov AV. P.F508del editing in cells from cystic fibrosis patients. PLoS ONE 15(11): e0242094.

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0242094