Park Kee Hong, Jung Junghee, Lee Jung-Hee, Hong Yoon-Ho
Department of Neurology, Gyeongsang National University Hospital, Jinju 52727, Korea.
Department of Bioinformatics, Macrogen Inc., Seoul 08511, Korea.
Exp Neurobiol. 2016 Feb;25(1):40-7. doi: 10.5607/en.2016.25.1.40. Epub 2016 Feb 22.
Myasthenia gravis (MG) is an antibody-mediated autoimmune disease characterized by exertional weakness. There is no biomarker to reflect disease activity and guide treatment decision. Here, we reported a pilot blood transcriptome study using RNA sequencing (RNA-seq) that identified differences of 5 samples in active status and 5 in remission from 8 different patients and 2 patients provided samples for both active and remission phase. We found a total of 28 differentially expressed genes (DEGs) possibly related to disease activity (23 up-regulated and 5 down-regulated). The DEGs were enriched for the cell motion and cell migration processes in which included were ICAM1, CCL3, S100P and GAB2. The apoptosis and cell death pathway was also significantly enriched, which includes NFKBIA, ZC3H12A, TNFAIP3, and PPP1R15A. Our result suggests that transcript abundance profiles of the genes involved in cell trafficking and apoptosis may be a molecular signature of the disease activity in MG patients.
重症肌无力（MG）是一种由抗体介导的自身免疫性疾病，其特征为运动性肌无力。目前尚无反映疾病活动度并指导治疗决策的生物标志物。在此，我们报告了一项使用RNA测序（RNA-seq）的血液转录组初步研究，该研究在8名不同患者中鉴定出5份活动期样本和5份缓解期样本的差异，另有2名患者提供了活动期和缓解期的样本。我们共发现28个可能与疾病活动度相关的差异表达基因（DEG）（23个上调，5个下调）。这些DEG在细胞运动和细胞迁移过程中富集，其中包括ICAM1、CCL3、S100P和GAB2。凋亡和细胞死亡途径也显著富集，其中包括NFKBIA、ZC3H12A、TNFAIP3和PPP1R15A。我们的结果表明，参与细胞运输和凋亡的基因的转录本丰度谱可能是MG患者疾病活动度的分子特征。
