琥珀酸脱氢酶基因与颈动脉体瘤  

Succinate Dehydrogenase Gene and Carotid Body Tumor

作　　者：王耀钟[1] 袁荣涛[1] 贾暮云[1] 

机构地区：[1]青岛大学医学院附属医院口腔颌面外科

出　　处：《医学综述》2009年第11期1624-1626,共3页Medical Recapitulate

摘　　要：线粒体琥珀酸脱氢酶B、C、D亚单位（SDHB、SDHC、SDHD）的基因突变可造成线粒体复合体Ⅱ结构和构象的改变,导致其功能减低或完全失活,引起氧传感通路异常及凋亡调控障碍,在家族性颈动脉体瘤的发病中发挥重要作用。而散发性颈动脉体瘤的发病与SDH基因的关系目前尚存在争议。The mutation in the genes of mitochondrial succinate dehydrogenase B, C, D subunits （ SDHB, SDHC, SDHD ） can change the structure and conformation of mitochondrial complex Ⅱ, leading to lower function or inactivate, which cause the defect of oxygen sensing pathway and regulation of apoptosis. It plays an important role in the invasion of the familial carotid body tumor. But the relationship between sporadic carotid body tumor and SDH gene are still unclear.

关 键 词：颈动脉体瘤 副神经节瘤 琥珀酸脱氢酶 

分 类 号：R739.91[医药卫生—肿瘤]