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表观遗传学如何影响人类疾病。

How epigenetics impacts on human diseases.

机构信息

Istituto di analisi dei sistemi ed informatica "Antonio Ruberti" (IASI), Consiglio Nazionale delle Ricerche (CNR), Via dei Taurini, 19 - 00185 Roma, Italy.

Istituto di biologia e Patologia Molecolari, (IBPM), Consiglio Nazionale delle Ricerche (CNR), P.le Aldo Moro 5, 00185, Roma, Italy.

出版信息

Eur J Intern Med. 2023 Aug;114:15-22. doi: 10.1016/j.ejim.2023.05.036. Epub 2023 Jun 3.

Abstract

Epigenetics is a rapidly growing field of biology that studies the changes in gene expression that are not due to alterations in the DNA sequence but rather the chemical modifications of DNA and its associated proteins. Epigenetic mechanisms can profoundly influence gene expression, cell differentiation, tissue development, and disease susceptibility. Understanding epigenetic changes is essential to elucidate the mechanisms underlying the increasingly recognized role of environmental and lifestyle factors in health and disease and the intergenerational transmission of phenotypes. Recent studies suggest epigenetics may be critical in various diseases, from cardiovascular disease and cancer to neurodevelopmental and neurodegenerative disorders. Epigenetic modifications are potentially reversible and could provide new therapeutic avenues for treating these diseases using epigenetic modulators. Moreover, epigenetics provide insight into disease pathogenesis and biomarkers for disease diagnosis and risk stratification. Nevertheless, epigenetic interventions have the potential for unintended consequences and may potentially lead to increased risks of unexpected outcomes, such as adverse drug reactions, developmental abnormalities, and cancer. Therefore, rigorous studies are essential to minimize the risks associated with epigenetic therapies and to develop safe and effective interventions for improving human health. This article provides a synthetic and historical view of the origin of epigenetics and some of the most relevant achievements.

摘要

表观遗传学是生物学中一个快速发展的领域,研究的是基因表达的变化,这些变化不是由于 DNA 序列的改变,而是由于 DNA 及其相关蛋白质的化学修饰。表观遗传机制可以深刻地影响基因表达、细胞分化、组织发育和疾病易感性。了解表观遗传变化对于阐明环境和生活方式因素在健康和疾病中的作用以及表型的代际传递的机制至关重要。最近的研究表明,表观遗传学可能在各种疾病中起关键作用,从心血管疾病和癌症到神经发育和神经退行性疾病。表观遗传修饰是潜在可逆的,并可能为使用表观遗传调节剂治疗这些疾病提供新的治疗途径。此外,表观遗传学为疾病发病机制和疾病诊断和风险分层的生物标志物提供了深入的了解。然而,表观遗传干预有可能带来意想不到的后果,并可能导致意外结果的风险增加,如药物不良反应、发育异常和癌症。因此,开展严格的研究对于最小化与表观遗传学治疗相关的风险以及开发安全有效的干预措施以改善人类健康至关重要。本文提供了对表观遗传学起源和一些最相关成就的综合和历史观点。

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