Nogales-Gadea Gisela, Ramos-Fransi Alba, Suárez-Calvet Xavier, Navas Miquel, Rojas-García Ricard, Mosquera Jose Luis, Díaz-Manera Jordi, Querol Luis, Gallardo Eduard, Illa Isabel
Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; CIBER de enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Department of Statistics, University of Barcelona, Barcelona, Spain.
PLoS One. 2014 Mar 17;9(3):e91927. doi: 10.1371/journal.pone.0091927. eCollection 2014.
Myasthenia gravis (MG) is an autoimmune disease characterized by the presence of autoantibodies, mainly against the acetylcholine receptor (AChR). The mechanisms triggering and maintaining this chronic disease are unknown. MiRNAs are regulatory molecules that play a key role in the immune system and are altered in many autoimmune diseases. The aim of this study was to evaluate miRNA profiles in serum of 61 AChR MG patients. We studied serum from patients with early onset MG (n = 22), late onset MG (n = 27) and thymoma (n = 12), to identify alterations in the specific subgroups. In a discovery cohort, we analysed 381 miRNA arrays from 5 patients from each subgroup, and 5 healthy controls. The 15 patients had not received any treatment. We found 32 miRNAs in different levels in MG and analysed 8 of these in a validation cohort that included 46 of the MG patients. MiR15b, miR122, miR-140-3p, miR185, miR192, miR20b and miR-885-5p were in lower levels in MG patients than in controls. Our study suggests that different clinical phenotypes in MG share common altered mechanisms in circulating miRNAs, with no additional contribution of the thymoma. MG treatment intervention does not modify the profile of these miRNAs. Novel insights into the pathogenesis of MG can be reached by the analysis of circulating miRNAs since some of these miRNAs have also been found low in MG peripheral mononuclear cells, and have targets with important roles in B cell survival and antibody production.
重症肌无力(MG)是一种自身免疫性疾病,其特征是存在自身抗体,主要针对乙酰胆碱受体(AChR)。引发和维持这种慢性疾病的机制尚不清楚。微小RNA(miRNA)是在免疫系统中起关键作用的调节分子,并且在许多自身免疫性疾病中发生改变。本研究的目的是评估61例AChR MG患者血清中的miRNA谱。我们研究了早发型MG患者(n = 22)、晚发型MG患者(n = 27)和胸腺瘤患者(n = 12)的血清,以确定特定亚组中的改变。在一个发现队列中,我们分析了来自每个亚组的5例患者以及5名健康对照的381个miRNA阵列。这15例患者未接受任何治疗。我们在MG患者中发现了32种水平不同的miRNA,并在一个包括46例MG患者的验证队列中分析了其中8种。与对照组相比,MG患者中的miR15b、miR122、miR - 140 - 3p、miR185、miR192、miR20b和miR - 885 - 5p水平较低。我们的研究表明,MG的不同临床表型在循环miRNA中具有共同的改变机制,胸腺瘤无额外影响。MG治疗干预不会改变这些miRNA的谱。通过分析循环miRNA可以获得对MG发病机制的新见解,因为其中一些miRNA在MG外周单个核细胞中也被发现水平较低,并且其靶标在B细胞存活和抗体产生中具有重要作用。