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J Oncol Res Ther. 2019;5(5). pii: 166. Epub 2018 Oct 3.

Advances in Brain Cancer: Creating Monoallelic Single Point Mutation in IDH1 by Single Base Editing.

Author information

1
Department of Neurologic Surgery, Mayo Clinic, Jacksonville, FL, USA.
2
Department of Biomedical Engineering, Johns Hopkins School of Medicine, Baltimore, MD, USA.
3
Hugo W. Moser Research Institute at Kennedy Krieger, Baltimore, MD, USA.
4
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Abstract

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)

PMID:
31328182
PMCID:
PMC6641564

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