Mutant metabolic enzymes are at the origin of gliomas.
Mutant metabolic enzymes are at the origin of gliomas.
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DOI：
10.1158/0008-5472.can-09-2650
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发表时间：
2009-12-15
期刊：
影响因子：
11.2
通讯作者：
Parsons DW
中科院分区：
文献类型：
--
作者：
Yan H;Bigner DD;Velculescu V;Parsons DW
异柠檬酸脱氢酶(IDH)代谢酶IDH1和IDH2的突变在星形细胞瘤和少突胶质细胞瘤中被发现是频繁的和早期的遗传改变。到目前为止发现的所有突变都会影响位于异柠檬酸结合位点内的单一氨基酸(IDH1的R132和IDH2的类似R172残基)。IDH1和IDH2突变定义了一种特定的胶质瘤亚型，并可能对这些肿瘤患者的诊断、预后和治疗具有重要的实用价值。
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.