The Multiple Sclerosis Research Group, Centre for Molecular Medicine, Department of Clinical Neuroscience, Karolinska Institutet, CMM L8:00, 171 76 Stockholm, Sweden.
Neurobiol Dis. 2010 Mar;37(3):613-21. doi: 10.1016/j.nbd.2009.11.014. Epub 2009 Nov 26.
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.
多发性硬化症（MS）是一种中枢神经系统（CNS）的自身免疫性脱髓鞘疾病，其病因包括遗传和环境因素，但发病机制仍不完全清楚。我们使用 Human Genome U133 plus 2.0 阵列（Affymetrix）对 26 名未经免疫调节治疗、处于复发或缓解期的 MS 患者和 18 名对照者的配对脑脊液（CSF）和外周血单核细胞（PBMC）样本进行了基因表达谱分析。在 CSF 中，与对照组相比，939 个探针组在 MS 患者中检测到差异表达，但在 PBMC 中没有，这证实了 CSF 细胞可能反映了疾病过程。通过定量 PCR 验证了 MS 患者 CSF 中选定转录本的调节。然而出乎意料的是，当比较复发期和缓解期的 MS 患者时，在 PBMC 中检测到 266 个探针组差异表达，而在 CSF 细胞中没有，这表明 CNS 以外的事件在触发复发中很重要。
