IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma
文献类型：期刊论文
| 作者 | Lu J1; Zou Y2; Xu L2,3; Yang RX4; Fan Y2,3; Zhang W2; Yu DD[*]2; Yao YG2 |
| 刊名 | MEDICAL SCIENCE MONITOR
 |
| 出版日期 | 2014 |
| 卷号 | 20期号:X页码:247-254 |
| 关键词 | Mutation - genetics Carcinogenesis Histones Carcinoma Hepatocellular |
| 通讯作者 | yudandan@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | Background: Recent studies have identified prevalent isocitrate dehydrogenase 1 (IDH1) codon 132 mutations (p.R132) in gliomas and acute myeloid leukemia (AML). The IDH1 mutations lead to a loss of its normal enzymatic activity and acquisition of neomorphic activity in production of alpha-ketoglutarate (alpha-KG) and 2-hydroxyglutarate (2-HG), which finally cause alterations of multiple gene expression of tumorigenesis-associated alpha-KG-dependent enzymes. The aim of this study was to determine whether IDH1 p.R132 mutations are involved in the carcinogenesis of hepatocellular carcinoma. Material/Methods: A total of 87 Han Chinese patients with primary hepatocellular carcinoma (HCC) were analyzed by direct DNA sequencing for IDH1 p.R132 mutations. The expression levels of multiple alpha-KG-dependent enzymes and associated genes were quantified in HepG2 cells overexpressing IDH1 p.R132 mutants by Western blotting and real-time PCR. Results: None of 87 Han Chinese patients with HCC harbored any IDH1 p.R132 mutations. The protein levels of HIF-1 alpha and histone methylation marker (H3K4me3 and H3K79me2) were determined in HepG2 cells overexpressing IDH1 p.R132 mutants, but we discerned no difference. Measurement of mRNA expression levels of VEGF, GLUT1, and HOXA genes also showed no significant difference between cells overexpressing IDH1 wild-type and p.R132 mutants. Conclusions: Our negative results, together with some previous reports of the absence of IDH1 p.R132 mutations in HCC tissues, suggests that IDH1 p.R132 mutations are not actively involved in the development of HCC. |
| 收录类别 | SCI |
| WOS记录号 | WOS:000331659600001 |
| 公开日期 | 2014-10-16 |
| 源URL | [http://159.226.149.42:8088/handle/152453/8074]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Hepatology and Cancer Biotherapy Ward, Beijing YouAn Hospital, Capital Medical University, Beijing, China 2.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China 4.Third Affiliated Hospital of Kunming Medical University (Tumor Hospital of Yunnan Province), Kunming, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Lu J,Zou Y,Xu L,et al. IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma[J]. MEDICAL SCIENCE MONITOR,2014,20(X):247-254. |
| APA | Lu J.,Zou Y.,Xu L.,Yang RX.,Fan Y.,...&Yao YG.(2014).IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma.MEDICAL SCIENCE MONITOR,20(X),247-254. |
| MLA | Lu J,et al."IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma".MEDICAL SCIENCE MONITOR 20.X(2014):247-254. |
入库方式： OAI收割
来源：昆明动物研究所
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