| 肿瘤SDH基因突变的研究进展 |
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| 引用本文： | 曹智发,陈伟才,杨佩佩,周海梦,欧文斌. 肿瘤SDH基因突变的研究进展[J]. 生物化学与生物物理进展, 2017, 44(1): 31-43 |
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| 作者姓名： | 曹智发 陈伟才 杨佩佩 周海梦 欧文斌 |
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| 作者单位： | 浙江理工大学生命科学学院，浙江省家蚕生物反应器和生物医药重点实验室，杭州 310018,浙江理工大学生命科学学院，浙江省家蚕生物反应器和生物医药重点实验室，杭州 310018,浙江理工大学生命科学学院，浙江省家蚕生物反应器和生物医药重点实验室，杭州 310018,浙江清华长三角研究院，浙江省应用酶学重点实验室，嘉兴 314006,浙江理工大学生命科学学院，浙江省家蚕生物反应器和生物医药重点实验室，杭州 310018；浙江清华长三角研究院，浙江省应用酶学重点实验室，嘉兴 314006 |
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| 基金项目： | 浙江省重大科技专项(2012C03007-4)，浙江省嘉兴市科技计划项目(2014AY21021)，浙江省高校生物学重中之重一级学科浙江理工大学科研启动基金(14042107-Y)资助 |
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| 摘 要： | 线粒体琥珀酸脱氢酶(succinate dehydrogenase,SDH)是三羧酸循环和有氧电子传递呼吸链中的关键酶之一,包含A、B、C、D 4个亚基.4个亚基分别由4个基因编码,即SDHA、SDHB、SDHC和SDHD,4个基因突变可以诱发癌症,包括副神经节瘤(paraganglioma,PGL)、嗜铬细胞瘤(pheochromocytoma,PHEO)、肾细胞癌(renal cell carcinoma,RCC)、胃肠道间质瘤(gastrointestinal stromal tumors,GIST)、Leigh综合症等.近年来,突变的SDH已经被证实是一种重要的诊断与预后的生物标志物和治疗分子标靶.本文就SDH存在的各种突变以及在肿瘤发生、发展与转移的作用机理研究的进展进行全面的论述.
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| 关 键 词： | 琥珀酸脱氢酶，SDH突变，副神经节瘤，嗜铬细胞瘤，肾细胞癌，胃肠道间质瘤 |
| 收稿时间： | 2016-08-18 |
| 修稿时间： | 2016-12-01 |
Advances of Succinate Dehydrogenase Mutation in Cancers |
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| CAO Zhi-F,CHEN Wei-Cai,YANG Pei-Pei,ZHOU Hai-Meng and OU Wen-Bin. Advances of Succinate Dehydrogenase Mutation in Cancers[J]. Progress In Biochemistry and Biophysics, 2017, 44(1): 31-43 |
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| Authors: | CAO Zhi-F CHEN Wei-Cai YANG Pei-Pei ZHOU Hai-Meng OU Wen-Bin |
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| Affiliation: | Zhejiang Provincial Key Laboratory of Silkworm Bioreactor and Biomedicine, Zhejiang Sci-Tech University, Hangzhou 310018, China,Zhejiang Provincial Key Laboratory of Silkworm Bioreactor and Biomedicine, Zhejiang Sci-Tech University, Hangzhou 310018, China,Zhejiang Provincial Key Laboratory of Silkworm Bioreactor and Biomedicine, Zhejiang Sci-Tech University, Hangzhou 310018, China,Zhejiang Provincial Key Laboratory of Applied Enzymology, Yangtze Delta Region Institute of Tsinghua University, Jiaxing 314006, China and Zhejiang Provincial Key Laboratory of Silkworm Bioreactor and Biomedicine, Zhejiang Sci-Tech University, Hangzhou 310018, China; Zhejiang Provincial Key Laboratory of Applied Enzymology, Yangtze Delta Region Institute of Tsinghua University, Jiaxing 314006, China |
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| Abstract: | Succinate dehydrogenase(SDH), a cruciral multiprotein enzymatic complex in the Krebs cycle/transport chain, is located in the cristate of the mitochondria, and composed of A, B, C, and D subunits, which are encoded by SDHA, SDHB, SDHC, and SDHD, respectively. The SDH mutations play a crucial oncogenic role in paraganglioma (PGL, types 1-5), pheochromocytoma (PHEO), renal cell carcinoma (RCC), gastrointestinal stromal tumors (GIST), rare hypophyseal adenomas, and Leigh syndromes. Mutated SDH has been proved to be an important biomarker for diagnosis and a therapeutic target in these cancers. This review summarized and updated a variety of SDH mutations in the neoplasms and discussed the oncogenic role of SDH mutants in proliferation, apoptosis, invasion, migration, tumorgenesis and senescence. |
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| Keywords: | SDH SDH mutation PGL PHEO RCC GIST |
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