IDH1、IDH2基因突变在肿瘤中的作用

doi:10.3760/cma.j.issn.1673422X.2015.05.008

国际肿瘤学杂志 ›› 2015, Vol. 42 ›› Issue (5): 351-354.doi: 10.3760/cma.j.issn.1673422X.2015.05.008

IDH1、IDH2基因突变在肿瘤中的作用

浙江省肿瘤医院肿瘤研究所

出版日期:2015-05-08 发布日期:2015-05-12
通讯作者: 凌志强 lingzq@hotmail.com
基金资助:
浙江省自然科学基金（LZ13H160002）；浙江省卫生高层次创新人才培养工程基金；浙江省新世纪151人才工程重点资助基金

Effects of IDH1 and IDH2 genes mutations on tumors

Cancer Research Institute, Zhejiang Province Cancer Hospital

Online:2015-05-08 Published:2015-05-12
Contact: Ling Zhiqiang lingzq@hotmail.com

摘要/Abstract

摘要： 异柠檬酸脱氢酶(IDH)是三羧酸循环中的一种关键酶，近年来在多种肿瘤中发现了频发的IDH1、IDH2基因突变，这些突变特异性改变酶的催化活性，即直接催化α酮戊二酸（αKG）生成R2羟戊二酸(R2HG），竞争性抑制组蛋白和DNA去甲基酶等多种αKG依赖的双加氧酶，并可能由此促进肿瘤的发生发展，此外，IDH1、IDH2基因突变状态与肿瘤患者预后相关。IDH1、IDH2基因是一个潜在的肿瘤早期诊断、预后评估和靶向治疗的标志性基因。

Abstract: Isocitrate dehydrogenases (IDHs) are considered as key enzymes in the tricarboxylic acid cycle. Recurrent mutations in the IDH1 and IDH2 genes are recently found in several human cancers. Those point mutations specifically affect IDH1 and IDH2 active site arginine residues and confer a neomorphic enzyme function of directly catalyzing αketoglutarate (αKG) to R2hydroxyglutarate (R2HG). R2HG can competitively inhibits αKGdependent enzymes and may therefore contribute to the occurrence and development of tumor. In addition, Mutation status of IDH1 and IDH2 are closely relative to the progress and prognosis of certain tumor. Thus IDH1 and IDH2 are considered to be promising biomarkers for early diagnosis and prognosis and targeted therapy.

刘翔, 凌志强. IDH1、IDH2基因突变在肿瘤中的作用[J]. 国际肿瘤学杂志, 2015, 42(5): 351-354.

LIU Xiang, LING Zhi-Qiang. Effects of IDH1 and IDH2 genes mutations on tumors[J]. Journal of International Oncology, 2015, 42(5): 351-354.

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IDH1、IDH2基因突变在肿瘤中的作用

Effects of IDH1 and IDH2 genes mutations on tumors

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