Konsta Orsia D, Thabet Yosra, Le Dantec Christelle, Brooks Wesley H, Tzioufas Athanasios G, Pers Jacques-Olivier, Renaudineau Yves
Research Unit EA2216 Immunology, Pathology and Immunotherapy, SFR ScinBios and Labex Igo "Immunotherapy Graft, Oncology", Réseau Épigénétique du Cancéropole Grand Ouest, European University of Brittany Brest France ; Department of Pathophysiology, School of Medicine, National University of Athens Athens, Greece.
Research Unit EA2216 Immunology, Pathology and Immunotherapy, SFR ScinBios and Labex Igo "Immunotherapy Graft, Oncology", Réseau Épigénétique du Cancéropole Grand Ouest, European University of Brittany Brest France.
Front Genet. 2014 Apr 3;5:71. doi: 10.3389/fgene.2014.00071. eCollection 2014.
Sjögren's syndrome (SS) is a chronic autoimmune epithelitis that combines exocrine gland dysfunctions and lymphocytic infiltrations. While the pathogenesis of SS remains unclear, its etiology is multifunctional and includes a combination of genetic predispositions, environmental factors, and epigenetic factors. Recently, interest has grown in the involvement of epigenetics in autoimmune diseases. Epigenetics is defined as changes in gene expression, that are inheritable and that do not entail changes in the DNA sequence. In SS, several epigenetic mechanisms are defective including DNA demethylation that predominates in epithelial cells, an abnormal expression of microRNAs, and abnormal chromatin positioning-associated with autoantibody production. Last but not least, epigenetic modifications are reversible as observed in minor salivary glands from SS patients after B cell depletion using rituximab. Thus epigenetic findings in SS open new perspectives for therapeutic approaches as well as the possible identification of new biomarkers.
干燥综合征（SS）是一种慢性自身免疫性上皮炎，伴有外分泌腺功能障碍和淋巴细胞浸润。虽然SS的发病机制尚不清楚，但其病因是多方面的，包括遗传易感性、环境因素和表观遗传因素的综合作用。最近，表观遗传学在自身免疫性疾病中的作用越来越受到关注。表观遗传学被定义为基因表达的变化，这种变化是可遗传的，并且不涉及DNA序列的改变。在SS中，几种表观遗传机制存在缺陷，包括上皮细胞中占主导地位的DNA去甲基化、微小RNA的异常表达以及与自身抗体产生相关的染色质定位异常。最后但同样重要的是，使用利妥昔单抗清除B细胞后，在SS患者的小唾液腺中观察到表观遗传修饰是可逆的。因此，SS中的表观遗传学发现为治疗方法以及可能识别新的生物标志物开辟了新的前景。
