Mutant metabolic enzymes are at the origin of gliomas.
Mutations of the isocitrate dehydrogenase (IDH) metabolic enzymes IDH1 and IDH2 have been found to be frequent and early genetic alterations in astrocytomas and oligodendrogliomas. All mutations identified to date affect a single amino acid located within the isocitrate binding site (R132 of IDH1 and the analogous R172 residue of IDH2). IDH1 and IDH2 mutations define a specific subtype of gliomas and may have significant utility for the diagnosis, prognosis, and treatment of patients with these tumors.
Yan
Hai
H
The Pediatric Brain Tumor Foundation Institute, Duke University Medical Center, Durham, North Carolina, USA. hai.yan@duke.edu
Bigner
Darell D
DD
Velculescu
Victor
V
Parsons
D Williams
DW
D001254:Astrocytoma / Q000201:enzymology* / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000201:enzymology* / Q000235:genetics; D005909:Glioblastoma / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D009154:Mutation
C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human