Fryc Justyna, Midro Alina T, Panasiuk Barbara, Sierakowski Stanisław
Przegl Lek. 2015;72(1):25-30.
Systemic sclerosis is a complex autoimmune disease characterized by immune activation, fibrosis of the skin and internal organs and vasculopathy affecting predominantly the microvessels with a predilection for women. The genetic background of systemic sclerosis is still full of unanswered questions, with classical genetics able to explain only some systemic sclerosis cases. Novel advances concerning epigenetics give us new insight into pathogenesis of systemic sclerosis. This review focuses on results of recent reports on epigenetic modifications of the gene functions and X inactivation changes in pathogenesis of systemic sclerosis. Current evidence demonstrates DNA heavy methylation (FLI1, NOS3, BMPRII) and hypomethylation of regulatory genes (CD40L, CD70), histone code modifications, abnormal expression of large spectrum of microRNAs.
系统性硬化症是一种复杂的自身免疫性疾病，其特征为免疫激活、皮肤和内脏器官纤维化以及主要影响微血管的血管病变，女性更易患病。系统性硬化症的遗传背景仍存在诸多未解之谜，经典遗传学仅能解释部分系统性硬化症病例。表观遗传学的新进展为我们深入了解系统性硬化症的发病机制提供了新视角。本综述聚焦于近期有关系统性硬化症发病机制中基因功能表观遗传修饰及X染色体失活变化的报道结果。现有证据表明存在DNA高度甲基化（FLI1、NOS3、BMPRII）以及调控基因（CD40L、CD70）的低甲基化、组蛋白编码修饰、大量微小RNA的异常表达。
