Effects of IDH1 and IDH2 genes mutations on tumors / 国际肿瘤学杂志

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 com-petitively 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 cer-tain tumor. Thus IDH1 and IDH2 are considered to be promising biomarkers for early diagnosis and prognosis and targeted therapy.