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表观遗传修饰在阻塞性睡眠呼吸暂停低通气综合征及相关并发症中的作用与研究进展

The role and research progress of epigenetic modifications in obstructive sleep apnoea-hypopnea syndrome and related complications.

作者信息

Zhu Xiaoyan, Mao Zhenyu, Zheng Pengdou, Wang Lingling, Zhang Fengqin, Zi Guisha, Liu Huiguo, Zhang Huojun, Liu Wei, Zhou Ling

机构信息

Department of Respiratory and Critical Care Medicine, National Health Committee (NHC) Key Laboratory of Respiratory Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Department of Respiratory and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan, 430060, China.

出版信息

Respir Med. 2025 Jun;242:108099. doi: 10.1016/j.rmed.2025.108099. Epub 2025 Apr 12.

Abstract

Epigenetic modifications are heritable changes in gene expression that do not alter the DNA sequence. Histone modifications, non-coding RNA expression, and DNA methylation are examples of common epigenetic changes. Obstructive sleep apnoea-hypopnea syndrome (OSAHS) is the most common sleep-related breathing disorder, and its incidence is increasing annually, making it a hotspot of clinical research and significantly impacting health and well-being. The main cause of OSAHS is related to complications caused by repeated chronic intermittent hypoxia (CIH). Currently, polysomnography (PSG) and continuous positive airway pressure (CPAP) remain the gold standards for the diagnosis and treatment of OSAHS. However, their limitations-such as time consumption, high cost, and poor patient comfort-contribute to the paradox of high disease prevalence yet low rates of diagnosis and treatment, resulting in a substantial disease burden. In recent years, rapid advances in epigenetics have revealed that biomarkers such as microRNAs (miRNAs), circular RNAs (circRNAs), and other epigenetic modifications hold promise as non-invasive tools for the diagnosis and treatment of OSAHS and its related complications. Although numerous studies have explored epigenetic modifications in other diseases, this study focuses on how epigenetic modifications participate in the process of OSAHS and its related complications, with an aim of elucidating the pathogenesis of OSAHS from an epigenetic perspective and provide new directions for identifying molecular targets for the diagnosis and treatment of OSAHS and related complications.

摘要

表观遗传修饰是指基因表达的可遗传变化,而不改变DNA序列。组蛋白修饰、非编码RNA表达和DNA甲基化是常见表观遗传变化的例子。阻塞性睡眠呼吸暂停低通气综合征(OSAHS)是最常见的睡眠相关呼吸障碍,其发病率逐年上升,使其成为临床研究的热点,并对健康和幸福产生重大影响。OSAHS的主要病因与反复慢性间歇性缺氧(CIH)引起的并发症有关。目前,多导睡眠图(PSG)和持续气道正压通气(CPAP)仍然是OSAHS诊断和治疗的金标准。然而,它们存在局限性,如耗时、成本高和患者舒适度差,导致疾病患病率高但诊断和治疗率低的矛盾,造成了巨大的疾病负担。近年来,表观遗传学的快速发展表明,诸如微小RNA(miRNA)、环状RNA(circRNA)等生物标志物以及其他表观遗传修饰有望成为OSAHS及其相关并发症诊断和治疗的非侵入性工具。尽管众多研究已经探索了其他疾病中的表观遗传修饰,但本研究聚焦于表观遗传修饰如何参与OSAHS及其相关并发症的过程,旨在从表观遗传学角度阐明OSAHS的发病机制,并为确定OSAHS及其相关并发症诊断和治疗的分子靶点提供新方向。

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