Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China 530021.
Biomed Res Int. 2022 May 24;2022:8587273. doi: 10.1155/2022/8587273. eCollection 2022.
Myasthenia gravis (MG) is an autoimmune disease that severely affects the life quality of patients. This study explores the differences in immune cell types between MG and healthy control and the role of immune-related genes in the diagnosis of MG.
The GSE85452 dataset was downloaded from the Gene Expression Omnibus (GEO) database and analyzed using the limma package to determine differentially expressed genes (DEGs) between patients with MG and the control group. Differentially expressed immune cells were analyzed using single-sample gene set enrichment analysis (GSEA), while immune cell-associated modules were identified by weighted gene coexpression network analysis (WGCNA). Then, the expression of the identified hub genes was confirmed by RT-PCR in peripheral blood mononuclear cells (PBMCs) of MG patients. The R package pROC was used to plot the receiver operating characteristics (ROC) curves.
The modules related to CD56 natural killer cells were identified by GSEA and WGCNA. The proportion of CD56 natural killer cells in the peripheral blood of MG patients is low. The results of RT-PCR showed that the levels of DDB1- and CUL4-associated factor 12 (DCAF12) and heat shock protein family A member 1A (HSPA1A) were significantly decreased in peripheral blood mononuclear cells of MG patients compared with healthy controls. The ROC curve results of DCAF12 and HSPA1A mRNA in MG diagnosis were 0.780 and 0.830, respectively.
CD56 NK cell is lower in MG patients and may affect MG occurrence. DCAF12 and HSPA1A are lowly expressed in PBMCs of MG patients and may serve as the diagnostic biomarkers of MG.
重症肌无力（MG）是一种自身免疫性疾病，严重影响患者的生活质量。本研究旨在探讨 MG 患者与健康对照组之间免疫细胞类型的差异，以及免疫相关基因在 MG 诊断中的作用。
从基因表达综合数据库（GEO）下载 GSE85452 数据集，使用 limma 包分析，确定 MG 患者与对照组之间的差异表达基因（DEGs）。采用单样本基因集富集分析（GSEA）分析差异表达免疫细胞，采用加权基因共表达网络分析（WGCNA）鉴定免疫细胞相关模块。然后，通过实时荧光定量 PCR（RT-PCR）在 MG 患者的外周血单核细胞（PBMCs）中验证所鉴定的关键基因的表达。使用 R 包 pROC 绘制受试者工作特征（ROC）曲线。
通过 GSEA 和 WGCNA 鉴定与 CD56 自然杀伤细胞相关的模块。MG 患者外周血中 CD56 自然杀伤细胞的比例较低。RT-PCR 结果显示，与健康对照组相比，MG 患者 PBMCs 中 DDB1 和 CUL4 相关因子 12（DCAF12）和热休克蛋白家族 A 成员 1A（HSPA1A）的水平显著降低。DCAF12 和 HSPA1A mRNA 对 MG 诊断的 ROC 曲线下面积分别为 0.780 和 0.830。
MG 患者的 CD56NK 细胞较低，可能影响 MG 的发生。DCAF12 和 HSPA1A 在 MG 患者的 PBMCs 中表达水平降低，可能作为 MG 的诊断生物标志物。
