Lepedda Antonio Junior, Deiana Giovanni Andrea, Lobina Omar, Nieddu Gabriele, Baldinu Paola, De Muro Pierina, Andreetta Francesca, Sechi Elia, Arru Giannina, Corda Davide Giacomo, Sechi Gian Pietro, Formato Marilena
Department of Biomedical Sciences, University of Sassari, Viale San Pietro, Sassari, Italy.
Department of Medical, Surgical and Experimental Sciences, University of Sassari, Viale San Pietro, Sassari, Italy.
J Circ Biomark. 2019 Sep 11;8:1849454419875912. doi: 10.1177/1849454419875912. eCollection 2019 Jan-Dec.
Myasthenia gravis (MG) is an autoimmune disease leading to varying degrees of skeletal muscle weakness. It is caused by specific antibodies directed against definite components in the postsynaptic membrane at the neuromuscular junction (NMJ), such as the acetylcholine receptor (AChR) and the muscle-specific kinase (MUSK) receptor. In clinical practice, MG patients may be classified into three main subgroups based on the occurrence of serum autoantibodies directed against AChR or MUSK receptor or antibody-negative. As the MG subgroups differ in terms of clinical characteristics, disease pathogenesis, prognosis, and response to therapies, they could benefit from targeted treatment as well as the detection of other possible disease biomarkers. We performed proteomics on plasma fractions enriched in low-abundance proteins to identify potential biomarkers according to different autoimmune responses. By this approach, we evidenced a significant reduction of vitronectin in MG patients compared to healthy controls, irrespective of the autoantibodies NMJ target. The obtained results were validated by mono- and two-dimensional Western blotting analysis. Vitronectin is a multifunctional glycoprotein involved in the regulation of several pathophysiological processes, including complement-dependent immune response, coagulation, fibrinolysis, pericellular proteolysis, cell attachment, and spreading. The pathophysiological significance of the reduction of plasma vitronectin in MG patients has yet to be fully elucidated. It could be related either to a possible deposition of vitronectin at NMJ to counteract the complement-mediated muscle damage at this level or to a parallel variation of this glycoprotein in the muscle extracellular matrix with secondary induced alteration in clustering of AChRs at NMJ, as it occurs with variation in concentrations of agrin, another extracellular matrix component. The clinical value of measuring plasma vitronectin has yet to be defined. According to present findings, significantly lower plasma values of this glycoprotein might be indicative of an impaired complement-dependent immune response.
重症肌无力(MG)是一种自身免疫性疾病,可导致不同程度的骨骼肌无力。它是由针对神经肌肉接头(NMJ)突触后膜特定成分的特异性抗体引起的,如乙酰胆碱受体(AChR)和肌肉特异性激酶(MUSK)受体。在临床实践中,MG患者可根据针对AChR或MUSK受体的血清自身抗体的出现情况或抗体阴性分为三个主要亚组。由于MG亚组在临床特征、疾病发病机制、预后和对治疗的反应方面存在差异,它们可能受益于靶向治疗以及检测其他可能的疾病生物标志物。我们对富含低丰度蛋白质的血浆组分进行了蛋白质组学分析,以根据不同的自身免疫反应鉴定潜在的生物标志物。通过这种方法,我们发现与健康对照相比,MG患者的玻连蛋白显著减少,而与NMJ自身抗体靶点无关。所得结果通过一维和二维蛋白质印迹分析进行了验证。玻连蛋白是一种多功能糖蛋白,参与多种病理生理过程的调节,包括补体依赖性免疫反应、凝血、纤维蛋白溶解、细胞周蛋白水解、细胞附着和扩散。MG患者血浆玻连蛋白减少的病理生理意义尚未完全阐明。这可能与玻连蛋白在NMJ处的可能沉积以抵消该水平的补体介导的肌肉损伤有关,或者与该糖蛋白在肌肉细胞外基质中的平行变化有关,继而导致NMJ处AChR聚集的继发性改变,就像另一种细胞外基质成分聚集蛋白浓度变化时发生的情况一样。测量血浆玻连蛋白的临床价值尚未确定。根据目前的研究结果,这种糖蛋白的血浆值显著降低可能表明补体依赖性免疫反应受损。