皮肌炎/多肌炎表观遗传学标志物的研究进展

Advances in epigenetic markers of dermatomyositis/polymyositis

特发性炎性肌病(idiopathic inflammatory myopathy,IIM)是一组罕见的异质性的系统性自身免疫性疾病,其特点为慢性肌无力、肌肉疲劳及骨骼肌单个核细胞浸润[1]。IIM亚型包括皮肌炎、多肌炎、包涵体肌炎以及免疫介导的坏死性肌炎[2],临床上以皮肌炎、多肌炎最为常见。多肌炎是以肌肉损害为主要表现的自身免疫性疾病,当累及皮肤时称为皮肌炎。IIM年发病率较低,为(1.16~19)/1 000 000 [3],但病死率高,预后差[1]。IIM发病机制仍不明确,既往研究认为免疫与非免疫机制均参与了其发病[4],尤其是细胞免疫异常及体液免疫异常[5]。近年来,研究者们对IIM的发病机制已进行了诸多研究[6],尤其是将高通量生物组学技术广泛应用于皮肌炎/多肌炎的研究中。

Idiopathic inflammatory myopathy (IIM) is a rare group of autoimmune diseases, characte- rized by chronic muscle weakness, muscle fatigue and infiltration of single nuclear cells in skeletal muscle. Its subtypes include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and immune-mediated necrotizing myositis (IMNM), and the most common subtypes are DM and PM. PM is an autoimmune disease mainly manifested by muscle damage. When the skin is involved, it is called DM. The incidence of IIM was relatively low, which was 1.16-19 per million people/year, but the mortality was high and the prognosis was poor. The pathogenesis of IIM is still unclear. Previous stu- dies suggest that both immune and non-immune mechanisms are involved in its pathogenesis, especially cellular and humoral immunity. In recent years, researchers have conducted a number of studies on the pathogenesis of IIM, especially in the study of DM/PM with the application of high-throughput biome- trics . Epigenetics is a discipline that refers to the genetic phenomena of DNA methylation spectrum, chromatin structure state and gene expression spectrum transferred between cells without any changes in DNA sequence, including DNA methylation, chromatin modification and non-coding RNA changes. A large number of studies have shown that epigenetic modification plays an important role in many diseases, especially in cancer. Recent studies have also found a series of epigenetic markers related to the occurrence and development of DM/PM, mainly in the aspect of non-coding RNA changes, such as miR-10a, miR-206, etc. And there has also been some research on DNA methylation. However, no studies have been reported on whether chromatin modification is involved in the pathogenesis of DM/PM. The pathogenesis of DM/PM is complex and diverse. With the development of research, certain microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) may become biological markers for the early diagnosis of DM/PM. Therefore, this paper mainly expounds the research progress of the biomarkers of DM/PM from the aspect of epigenetics.