乙酰胆碱受体抗体阳性重症肌无力外周血单个核细胞miRNA表达谱

目的本研究对比乙酰胆碱受体抗体阳性重症肌无力患者(AchR-MG)和正常对照组外周血单个核细胞miRNA,预测对AchR-MG发病可能产生影响的通路,为进一步探讨发病机制打下基础。方法采用病例对照研究方法,基于高通量测序,筛选了AchR-MG特异性表达的miRNA。利用TargetScan、miRanda进行靶基因交叉预测,利用基因条目(GO)和京都基因与基因组百科全书(KEGG)进行富集分析。结果共筛选出差异性miRNA 28种,其中上调17种,下调11种。差异最显著的前5个为:mmu-miR-3968、miR-4785、miR-210-3p、miR-664a-3p、miR-2277-5p。miR-4785预测到METTL22、TMEM38A、ZNF324、ITGB4、CDC34等395种靶基因。最终识别了319条GO term(P 0.01),获得了119个的风险通路(P0.05)。结论 AchR-MG特异性表达miR-4785、miR-210-3p、miR-664a-3p、miR-2277-5p等28种miRNA。以Wnt信号通路为代表的多种通路可能参与AchR-MG的发病。

Expression profile of microRNAs in peripheral blood mononuclear cells of patients with myasthenia gravis with acetylcholine receptor antibodies

Objective To investigate the difference in the expression profile of microRNAs (miRNAs) in peripheral blood mononuclear cells (PBMCs) between patients with myasthenia gravis with acetylcholine receptor antibodies (AchR-MG) and healthy controls, predict the possible pathways involved in the development of AchR-MG, and to lay a foundation for further research on the pathogenesis of AchR-MG.Methods A case-control study was performed to screen out specifically expressed miRNAs in AchR-MG patients based on high-throughput sequencing. TargetScan and miRanda were used for cross-prediction of target genes, and gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed.Results A total of 28 differentially expressed miRNAs were screened out, among which 17 were upregulated and 11 were downregulated. The top 5 differentially expressed miRNAs were mmu-miR-3968, miR-4785, miR-210-3p, miR-664a-3p, and miR-2277-5p. A total of 395 target genes, such as METTL22, TMEM38A, ZNF324, ITGB4, and CDC34, were predicted for miR-4785. A total of 319 GO terms were identified (P<0.01), and 119 risk pathways were obtained (P<0.05).Conclusions A total of 28 specifically expressed miRNAs are found in AchR-MG, including miR-4785, miR-210-3p, miR-664a-3p, and miR-2277-5p. Multiple pathways, including the Wnt signaling pathway, may be involved in the pathogenesis of AchR-MG.