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Gene expression profiling in multiple sclerosis: a disease of the central nervous system, but with relapses triggered in the periphery?

机译:多发性硬化症中的基因表达谱分析:是中枢神经系统疾病,但周围组织触发了复发?

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The aetiology of multiple sclerosis (MS), an autoimmune demyelinating disease of the central nervous system (CNS), includes both genetic and environmental factors, but the pathogenesis is still incompletely known. We performed gene expression profiling on paired cerebrospinal fluid (CSF) and peripheral blood mononuclear cells (PBMCs) samples from 26 MS patients without immunomodulatory treatment, sampled in relapse or remission, and 18 controls using Human Genome U133 plus 2.0 arrays (Affymetrix). In the CSF, 939 probe sets detected differential expression in MS patients compared to controls, but none in PBMCs, confirming that CSF cells might mirror the disease processes. The regulation of selected transcripts in CSF of MS patients was confirmed by quantitative PCR. Unexpectedly however, when comparing MS patients in relapse to those in remission, 266 probe sets detected differential expression in PBMCs, but not in CSF cells, indicating the importance of events outside of the CNS in the triggering of relapse.
机译:多发性硬化症(MS)的病因包括遗传和环境因素,是一种中枢神经系统(CNS)的自身免疫性脱髓鞘疾病,但其发病机理仍不完全清楚。我们对26例未经免疫调节治疗的MS患者的脑脊液(CSF)和外周血单核细胞(PBMC)样本进行了基因表达谱分析,以复发或缓解方式进行了采样,并使用Human Genome U133 plus 2.0阵列(Affymetrix)进行了18例对照。在CSF中,与对照组相比,有939个探针组在MS患者中检测到差异表达,而在PBMC中则没有,表明CSF细胞可能反映了疾病过程。通过定量PCR证实了MS患者的CSF中所选转录物的调节。但是,出乎意料的是,当将复发的MS患者与缓解的MS患者进行比较时,有266个探针组在PBMC中检测到差异表达,但在CSF细胞中未检测到差异表达,表明CNS以外事件在触发复发中的重要性。

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