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青少年特发性脊柱侧凸和先天性脊柱侧凸的表观遗传学研究进展

Advances in epigenetic research of adolescent idiopathic scoliosis and congenital scoliosis.

作者信息

Sun Duan, Ding Zihao, Hai Yong, Cheng Yunzhong

机构信息

Department of Orthopedic Surgery, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.

出版信息

Front Genet. 2023 Jul 26;14:1211376. doi: 10.3389/fgene.2023.1211376. eCollection 2023.

Abstract

Scoliosis is a three-dimensional structural deformity of the spine; more than 80% of scoliosis has no specific pathogenesis but is understood to be closely related to genetic, hormonal, and environmental factors. In recent years, the epigenetic alterations observed in scoliosis have been analyzed in numerous studies to determine the pathogenesis and progression of this condition, however, there is currently no comprehensive review of the epigenetic factors to date. We searched PubMed, Embase, and Web of Science databases for relative studies without language and date restrictions in March 2023. Twenty-five studies were included in this review and analyzed from the four main aspects of epigenetic alteration: DNA methylation, non-coding RNAs, histone modifications, and chromatin remodeling. The relationship between DNA methylation, non-coding RNAs, and scoliosis was considerably reported in the literature, and the corresponding related signaling pathways and novel biomarkers observed in scoliosis provide insights into innovative prevention and treatment strategies. However, the role of histone modifications is rarely reported in scoliosis, and few studies have investigated the relationship between scoliosis and chromatin remodeling. Therefore, these related fields need to be further explored to elucidate the overall effects of epigenetics in scoliosis.

摘要

脊柱侧弯是脊柱的一种三维结构畸形;超过80%的脊柱侧弯没有特定的发病机制,但据认为与遗传、激素和环境因素密切相关。近年来,众多研究对脊柱侧弯中观察到的表观遗传改变进行了分析,以确定这种疾病的发病机制和进展情况,然而,目前尚无对表观遗传因素的全面综述。我们于2023年3月在PubMed、Embase和科学网数据库中检索了相关研究,不受语言和日期限制。本综述纳入了25项研究,并从表观遗传改变的四个主要方面进行分析:DNA甲基化、非编码RNA、组蛋白修饰和染色质重塑。文献中大量报道了DNA甲基化、非编码RNA与脊柱侧弯之间的关系,在脊柱侧弯中观察到的相应相关信号通路和新型生物标志物为创新的预防和治疗策略提供了思路。然而,组蛋白修饰在脊柱侧弯中的作用鲜有报道,很少有研究探讨脊柱侧弯与染色质重塑之间的关系。因此,需要进一步探索这些相关领域,以阐明表观遗传学在脊柱侧弯中的整体作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8337/10411889/2a08d1e3075c/fgene-14-1211376-g001.jpg

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