一例库欣综合征肾上腺皮质腺瘤的基因表达特征及与发病相关的分子机制  

The characteristics of the gene expression and its associated molecular mechanism of one case with Cushing′ssyndrome(adrenalcorticoadenoma)

作　　者：彭永德[1] 顾彦杰[1] 胡仁明[1] 任双喜[2] 宋怀东[1] 宗明[2] 黄秋花[2] 刘晓明[2] 徐淑华[2] 陈名道[1] 韩泽广[2] 陈家伦[1] 

机构地区：[1]上海第二医科大学附属瑞金医院 [2]国家人类基因组南方研究中心

出　　处：《中华内分泌代谢杂志》2001年第4期213-216,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的　探讨伴库欣综合征肾上腺皮质腺瘤 (简称库欣腺瘤 )的基因表达特征及与发病相关的分子机制。方法　肾上腺文库构建、大规模表达序列标签 (ESTs)测序及生物信息学分析。结果　从库欣腺瘤文库中获得 2 0 89ESTs ,成功率 98.9% ,其中已知基因的功能分类与正常肾上腺文库分布趋势基本相一致 ,类固醇激素生物合成通路中某些酶基因 ,如 3 β羟类固醇脱氢酶 (3bHSDⅡ )及P45 0c17A的表达丰度明显高于正常肾上腺 ,以 3bHSDⅡ最为突出。通过库欣腺瘤与正常肾上腺文库作基因表达丰度差异比较 ,显示 45个基因在两文库间表达的差异具有统计学意义 ,尤为引人注意的是在库欣腺瘤文库一些与肿瘤相关基因呈高表达 ,如热休克蛋白 90、金属泛调理素及腺苷酸转位因子等。而在正常肾上腺文库中表达的多种与抑制增殖或细胞凋亡相关基因在腺瘤文库未见表达。结论　该例腺瘤组织呈现旺盛的类固醇合成活性 ,肾上腺皮质腺瘤不仅有肿瘤相关基因的高表达 。Objective To explore the characteristics of the gene expression in Cushing′s adrenal corticoadenoma and its associated molecular mechanism. Methods cDNA libraries of human normal adrenal and the adenoma were constructed. Large scale sequencing and bioinformatics were used. Results From the tumor library, 2089 expressed sequence tags (ESTs) were obtained with a successful rate of 98.9%. The functional distribution of the known genes in the tumor coincided with that in normal adrenal. Some synthases such as 3bHSDⅡ and P450c17A involved in steroidogenesis were expressed more highly in the adenoma than those in normal adrenal, especially 3bHSDⅡ. By comparison with the expression abundance of genes and statistic analysis, the differences were significant in 45 genes between the tumor and normal adrenal libraries. Interestingly, some genes associated with tumorigenesis, including heat shock protein 90, metallopanstimulin (MPS1), adenine nucleotide translocators etc, were highly expressed in the adenoma. However, those genes related to apoptosis and suppressing proliferation were not found in the tumor library. Conclusion The adenoma shows exuberant activities in steroid synthesis. Not only does the tumor highly express the genes associated with tumorigenesis, but also those related to apoptosis and suppressing proliferation lowly existed in the tumor.

关 键 词：肾上腺皮质腺瘤 库欣综合征 基因表达谱 表达序列标签 ESTS 计算生物学 

分 类 号：R586.2[医药卫生—内分泌] R736.6[医药卫生—内科学]