Shah Sagar R, Quinones-Hinojosa Alfredo, Xia Shuli
Department of Neurologic Surgery, Mayo Clinic, Jacksonville, FL, USA.
Department of Biomedical Engineering, Johns Hopkins School of Medicine, Baltimore, MD, USA.
J Oncol Res Ther. 2019;5(5). Epub 2018 Oct 3.
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.
异柠檬酸脱氢酶1（IDH1）基因的突变发生在70%的二级和三级胶质瘤、10%的急性髓系白血病以及胆管癌、黑色素瘤和软骨肉瘤中。人们提出了许多机制来说明突变型IDH1的生物学功能。大多数关于突变型IDH1的功能研究是在具有IDH1野生型背景的外源性过表达系统中进行的。这篇小型综述评论了魏等人最近的出版物，其中采用了一种高效的“单碱基编辑”方法来产生单等位基因IDH1 R132H突变，而不会在IDH1基因中诱导双链断裂。
