Xiang Wei, Windl Otto, Westner Ingo M, Neumann Manuela, Zerr Inga, Lederer Rosa M, Kretzschmar Hans A
Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.
Ann Neurol. 2005 Aug;58(2):242-57. doi: 10.1002/ana.20551.
The pathomechanism of sporadic Creutzfeldt-Jakob disease (sCJD) in the central nervous system is insufficiently understood. The aims of this study were to identify differentially regulated genes in the frontal cortex of sCJD and to profile the gene expression patterns in sCJD by using Affymetrix HGU133A microarrays (Affymetrix, Santa Clara, CA). The microarray data were generated by dChip and analyzed by Significance Analysis of Microarray (SAM) software. A comparison between control and sCJD samples identified 79 upregulated and 275 downregulated genes, which showed at least 1.5- and 2-fold changes, respectively, in sCJD frontal cortex, with an estimated false discovery rate of 5% or less. The major alterations in sCJD brains included upregulation of the genes encoding immune and stress-response factors and elements involved in cell death and cell cycle, as well as prominent downregulation of genes encoding synaptic proteins. A comparison of the molecular subtypes of sCJD showed various expression patterns associated with particular subtypes. The range of the upregulated genes and the degree of the increased expression appeared to be correlated with the degree of the neuropathological alterations in particular subtypes. Conspicuously, sCJD brains showed a great similarity with ageing human brains, both in the global expression patterns and in the identified differentially expressed genes.
散发性克雅氏病(sCJD)在中枢神经系统中的发病机制尚未得到充分了解。本研究的目的是通过使用Affymetrix HGU133A微阵列(Affymetrix,加利福尼亚州圣克拉拉)来鉴定sCJD额叶皮质中差异调节的基因,并描绘sCJD中的基因表达模式。微阵列数据由dChip生成,并通过微阵列显著性分析(SAM)软件进行分析。对照样本与sCJD样本之间的比较鉴定出79个上调基因和275个下调基因,它们在sCJD额叶皮质中分别显示至少1.5倍和2倍的变化,估计错误发现率为5%或更低。sCJD脑内的主要变化包括编码免疫和应激反应因子以及参与细胞死亡和细胞周期的元件的基因上调,以及编码突触蛋白的基因显著下调。sCJD分子亚型的比较显示了与特定亚型相关的各种表达模式。上调基因的范围和表达增加的程度似乎与特定亚型的神经病理学改变程度相关。值得注意的是,sCJD脑在整体表达模式和鉴定出的差异表达基因方面都与老年人脑有很大相似性。