Mutant metabolic enzymes are at the origin of gliomas.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 19996293.
- Also identified by DOI 10.1158/0008-5472.CAN-09-2650 and PMC identifier 2794981.
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Abstract
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.
Medical subject headings
- Astrocytoma
- Central Nervous System Neoplasms
- Glioblastoma
- Isocitrate Dehydrogenase
- Mutation