Mutations in the Isocitrate Dehydrogenase 1 (IDH1) gene occur in 70% of grade II and grade III gliomas, 10% of acute myeloid leukemia, as well as cholangiocarcinomas, melanomas, and chondrosarcomas. Numerous mechanisms have been proposed to illustrate the biological function of mutant IDH1. Most functional studies of mutant IDH1 have been conducted in exogenous overexpression systems with the IDH1 wild type background. This mini-review comments on recent publication by Wei et al, in which a highly efficient "single base editing" approach was employed to generate monoallelic IDH1 R132H mutation without the induction of a double strand break in the IDH1 gene.
Keywords: Glioma; Heterozygous IDH1 R132H Mutation; Single Base Editing; Yes-Associated Protein (YAP).