致死性家族失眠症脑组织基因表达谱特点分析  

Analysis for the features of gene expression in brain tissues from fatal familial insomnia

作　　者：田婵[1] 刘翟[2] 孙清岚[2] 王荟[1] 范学宇[1] 许尹[1] 董小平[1] 

机构地区：[1]中国疾病预防控制中心病毒病预防控制所朊病毒病室,传染病预防控制国家重点实验室,传染病诊断和治疗协同创新中心,北京102206 [2]中国科学院微生物研究所网络信息中心

出　　处：《中华实验和临床感染病杂志（电子版）》2014年第3期17-21,共5页Chinese Journal of Experimental and Clinical Infectious Diseases(Electronic Edition)

基　　金：国家自然科学基金青年项目(No.81101302);国家自然科学基金面上项目(No.31270185)

摘　　要：目的研究致死性家族失眠症(FFI)脑组织基因表达谱特点。方法取3例FFI患者丘脑组织按照标准流程制备生物素标记的互补RNA,以正常人丘脑RNA为对照,利用人类基因组芯片U133+2.0检测FFI患者丘脑中差异表达基因,并分析差异基因表达特点。结果共有1 314个差异表达基因,其中254个上调,1 060个下调。主要受影响的分子功能是转录、转录调节和电子转移链。改变最显著的信号通路是阿尔茨海默病、帕金森病和氧化磷酸化。结论 FFI改变了丘脑大量基因表达,其中受影响最显著的信号通路与其他神经退行性疾病相关。Objective To study the features of gene expression in brain tissues of fatal familial insomnia （FFI）.MethodsThe gene expression differences of thalamus from three patients with FFI were analyzed by Human Genome U133＋ 2.0 chip, with normal thalamus as control. The characteristics of differentially expressed genes （DEGs） were analyzed by CAS 3.0 software.ResultsA total of 1314 DEGs were identiifed in the thalamus of FFI. Among them, 254 genes were up-regulated and 1060 ones were down-regulated. There were 1152 biological processes affected and the most significantly changed molecular functions included transcription and DNA-dependent regulation of transcription, electron transport chain, etc. According to KEGG classiifcation, there were 167 pathways changed, the top 3 changed pathways in the three groups mentioned above were oxidative phosphorylation, Parkinson’s disease （PD） and Alzheimer’s disease （AD）.Conclusions A large mount of genes changed their expression level. The most severely changed pathways were associated with other neurodegenerative diseases.

关 键 词：致死性家族失眠症 基因芯片 信号通路 FATAL FAMILIAL INSOMNIA (FFI) 

分 类 号：R740[医药卫生—神经病学与精神病学]