Abstract

As a group of autoimmune diseases, systemic sclerosis (scleroderma, SSc) is characterized by immune dysregulation, micro-vessels dominant obliteration, and the final fibrosis of the skin and or internal organs. Although the precise mechanisms are still unknown, increasing data shows that epigenetic mechanisms, such as DNA methylation, histone modification, and microRNA (miRNA), are strictly related to the pathogenesis of scleroderma. Epigenetic mechanisms, which can link genetics and environmental stress, represents a promising field in systemic sclerosis investigation. The objective of this review is, to sum up the current information about epigenetic alteration.

Highlights

  • Systemic sclerosis was first reported by Carlo Curzio in 1753 [1], with the disease becoming well-documented by 1842 [2]

  • The objective of this review is to sum up the current information on the epigenetic alteration in SSc, including DNA methylation, histone modification, and microRNA

  • Without causing alterations in the DNA sequence, epigenetics can cause heritable phenotypic changes [6, 7], which is vital in the regulation of gene expression and development

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Summary

Introduction

Systemic sclerosis (scleroderma, SSc) was first reported by Carlo Curzio in 1753 [1], with the disease becoming well-documented by 1842 [2]. Without causing alterations in the DNA sequence, epigenetics can cause heritable phenotypic changes [6, 7], which is vital in the regulation of gene expression and development. Major mechanisms of epigenetic gene regulation, such as chromatin remodeling, histone modification, DNA methylation, transcriptional regulation by non-coding RNA, and gene imprinting, can provide plausible links between environmental factors and disease predisposition and perpetuation. It is possible that epigenetics plays a vital role in the pathogenesis of SSc. It is worth noting that with the development of high throughput omics, it is testified that epigenetic mechanisms can lead to downstream effects on modulation of chromatin architecture and regulate gene transcription. As only a few epigenetic studies have been performed in SSc, the recent progress in DNA methylation, histone modification, and microRNAs are reviewed in this paper (Figure 1)

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