Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Department of Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Front Immunol. 2022 Sep 20;13:949206. doi: 10.3389/fimmu.2022.949206. eCollection 2022.
N6-methyladenosine (m6A) RNA modification is a new epigenetic regulation mechanism on eukaryotic mRNA. Few autoimmune diseases focused on the role of m6A in their pathogenies, and m6A modulation in the pathological process of primary Sjögren's syndrome (pSS) is still unknown. In this work, three microarray datasets of pSS patients were downloaded from the GEO database: datasets #1 and #2 from the whole peripheral blood (PB) samples, dataset #3 from the labial salivary gland tissue samples, as well as a PB cohort collected from our hospital. Six differentially expressed m6A regulators were identified by comparing the PB dataset #1 of pSS and healthy controls using the Wilcox test and logistic regression analysis. Among them, four (ALKBH5, RBMX, RBM15B, and YTHDF1) were confirmed as down-regulated in PB dataset #2 and in our PB cohort by RT-PCR, and four (ALKBH5, METTL3, RBM15B, and YTHDF1) were confirmed as down-regulated in the dataset #3 of the labial gland tissue. In addition, discrepantly expressed m6A regulators accompanied by diverse immunocytes, including dendritic cells (DCs), T cells, and CD56dim natural killer cells, and among the regulators, ALKBH5 and METTL3 were comprehensively linked with the infiltrated immune cells. Notably, the most enriched autophagy mechanism mediated by m6A was observed in pSS using functional annotation analysis. Ten hub genes were identified using a protein-protein interaction network, and their expression in PB dataset #2 and the expression of three genes (PIK3CA, STAT1, and MAPK3) in the labial gland tissue dataset #3 were confirmed. Our study provides evidence that m6A methylation is widely involved in the immune infiltration and autophagy of pSS, thus contributing to the pathogenesis of this disease and potentially representing a novel therapeutic target.
N6-甲基腺苷(m6A)RNA 修饰是真核 mRNA 上的一种新的表观遗传调控机制。少数自身免疫性疾病关注 m6A 在其发病机制中的作用,原发性干燥综合征(pSS)的病理过程中 m6A 的调节仍不清楚。在这项工作中,从 GEO 数据库中下载了三个 pSS 患者的微阵列数据集:数据集 #1 和 #2 来自全外周血(PB)样本,数据集 #3 来自唇腺组织样本,以及从我们医院收集的 PB 队列。通过 Wilcox 检验和逻辑回归分析比较 pSS 和健康对照的 PB 数据集 #1,鉴定了六个差异表达的 m6A 调节剂。其中,四个(ALKBH5、RBMX、RBM15B 和 YTHDF1)通过 RT-PCR 在 PB 数据集 #2 和我们的 PB 队列中被证实下调,四个(ALKBH5、METTL3、RBM15B 和 YTHDF1)在唇腺组织数据集 #3 中被证实下调。此外,差异表达的 m6A 调节剂伴随着不同的免疫细胞,包括树突状细胞(DCs)、T 细胞和 CD56dim 自然杀伤细胞,其中,ALKBH5 和 METTL3 与浸润的免疫细胞全面相关。值得注意的是,通过功能注释分析,在 pSS 中观察到 m6A 介导的最丰富的自噬机制。使用蛋白质-蛋白质相互作用网络鉴定了十个枢纽基因,在 PB 数据集 #2 中验证了它们的表达,在唇腺组织数据集 #3 中验证了三个基因(PIK3CA、STAT1 和 MAPK3)的表达。我们的研究提供了证据表明 m6A 甲基化广泛参与 pSS 的免疫浸润和自噬,从而有助于该疾病的发病机制,并可能代表一个新的治疗靶点。