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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.
Mitochondrial succinate dehydrogenase (SDH) is one of the key enzymes in the tricarboxylic acid cycle and aerobic electron transport respiration chain, including 4 subunits of A, B, C and D. The 4 subunits are composed of Four genes encoding SDHA, SDHB, SDHC and SDHD, four mutations can induce cancer, including paraganglioma (PGL), pheochromocytoma (PHEO), renal cell carcinoma , RCC), gastrointestinal stromal tumors (GIST), Leigh syndrome, etc. In recent years, mutated SDH has been proved to be an important biomarker and therapeutic molecular target for diagnosis and prognosis. In this paper, all kinds of mutations existing in SDH and the progress in the mechanism of tumorigenesis, development and metastasis are discussed comprehensively.