Role of isocitrate dehydrogenase 1/2 (IDH 1/2) gene mutations in human tumors

• Autores: Xiang Liu, Zhi-Qiang Ling
• Localización: Histology and histopathology: cellular and molecular biology, ISSN-e 1699-5848, ISSN 0213-3911, Vol. 30, Nº. 10, 2015, págs. 1155-1160
• Idioma: inglés
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• Resumen

  • In recent years, frequent isocitrate dehydrogenase 1/2 (IDH1/IDH2) gene mutations were found in a variety of tumors, which specifically alter arginine residues of catalytic active site in IDH1/IDH2 and confer new enzymatic function of directly catalyzing alpha-ketoglutarate (a-KG) to R-2-hydroxyglutarate (2-HG). 2-HG could competitively inhibit a-KG�dependent enzymes and might therefore contribute to tumorigenesis. In addition, mutation status of IDH1/IDH2 is closely related to the progress and prognosis of certain tumors. Thus IDH1/IDH2 is considered to be a promising biomarker for early diagnosis and prognosis and targeted therapy. In this study, the current research on IDH1/IDH2 mutation, especially the mechanisms and clinical characteristics related to tumor, are reviewed