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系统性硬化症的表观遗传学与发病机制;来龙去脉

Epigenetics and pathogenesis of systemic sclerosis; the ins and outs.

作者信息

Aslani Saeed, Sobhani Soheila, Gharibdoost Farhad, Jamshidi Ahmadreza, Mahmoudi Mahdi

机构信息

Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Hum Immunol. 2018 Mar;79(3):178-187. doi: 10.1016/j.humimm.2018.01.003. Epub 2018 Jan 9.

DOI:10.1016/j.humimm.2018.01.003
PMID:29330110
Abstract

The pathogenesis of many diseases is influenced by environmental factors which can affect human genome and be inherited from generation to generation. Adverse environmental stimuli are recognized through the epigenetic regulatory complex, leading to gene expression alteration, which in turn culminates in disease outcomes. Three epigenetic regulatory mechanisms modulate the manifestation of a gene, namely DNA methylation, histone changes, and microRNAs. Both epigenetics and genetics have been implicated in the pathogenesis of systemic sclerosis (SSc) disease. Genetic inheritance rate of SSc is low and the concordance rate in both monozygotic (MZ) and dizygotic (DZ) twins is little, implying other possible pathways in SSc pathogenesis scenario. Here, we provide an extensive overview of the studies regarding different epigenetic events which may offer insights into the pathology of SSc. Furthermore, epigenetic-based interventions to treat SSc patients were discussed.

摘要

许多疾病的发病机制受环境因素影响,这些环境因素可影响人类基因组并代代相传。不良环境刺激通过表观遗传调控复合体被识别,导致基因表达改变,进而最终导致疾病发生。三种表观遗传调控机制调节基因的表现,即DNA甲基化、组蛋白变化和微小RNA。表观遗传学和遗传学都与系统性硬化症(SSc)的发病机制有关。SSc的遗传率较低,单卵双胞胎(MZ)和双卵双胞胎(DZ)的一致率都很低,这意味着在SSc发病机制中存在其他可能的途径。在此,我们对有关不同表观遗传事件的研究进行了广泛概述,这些研究可能为SSc的病理学提供见解。此外,还讨论了基于表观遗传学的治疗SSc患者的干预措施。

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