RNA修饰是对底物RNA发生的动态和可逆的化学修饰，受特定修饰酶的调控。它们在许多疾病的调控中发挥着重要作用，比如癌症和其他疾病的发展。随着先进的测序技术的帮助，RNA修饰在人类疾病中的作用在科学研究中引起了越来越多的关注。本综述对几种常见的RNA修饰机制，包括m6A、m5C、m1A、m7G、Ψ、A-to-I编辑和ac4C进行了简要总结。重要的是，在本综述中我们讨论了它们在人类疾病中的潜在功能，包括癌症、神经疾病、心血管疾病、代谢性疾病、遗传和发育性疾病以及免疫紊乱。通过“写入-删除-读取”机制，RNA修饰调控着关键与疾病相关的mRNA的稳定性、翻译和定位，从而操纵疾病的发展。此外，在本综述中我们还重点介绍了当前所有可用的RNA修饰酶靶向小分子抑制剂或激活剂，其中大多数是针对m6A相关的酶，比如METTL3、FTO和ALKBH5。本综述为RNA修饰领域中的潜在临床治疗以及未来的研究方向提供了线索。需要进行更深入的研究来全面了解表观转录组学以及人类疾病的诊断、治疗和预后，以及RNA修饰的作用以及其抑制剂或激活剂的进一步发展。©2023. 四川国际医学交流促进会。

RNA modifications are dynamic and reversible chemical modifications on substrate RNA that are regulated by specific modifying enzymes. They play important roles in the regulation of many biological processes in various diseases, such as the development of cancer and other diseases. With the help of advanced sequencing technologies, the role of RNA modifications has caught increasing attention in human diseases in scientific research. In this review, we briefly summarized the basic mechanisms of several common RNA modifications, including m6A, m5C, m1A, m7G, Ψ, A-to-I editing and ac4C. Importantly, we discussed their potential functions in human diseases, including cancer, neurological disorders, cardiovascular diseases, metabolic diseases, genetic and developmental diseases, as well as immune disorders. Through the "writing-erasing-reading" mechanisms, RNA modifications regulate the stability, translation, and localization of pivotal disease-related mRNAs to manipulate disease development. Moreover, we also highlighted in this review all currently available RNA-modifier-targeting small molecular inhibitors or activators, most of which are designed against m6A-related enzymes, such as METTL3, FTO and ALKBH5. This review provides clues for potential clinical therapy as well as future study directions in the RNA modification field. More in-depth studies on RNA modifications, their roles in human diseases and further development of their inhibitors or activators are needed for a thorough understanding of epitranscriptomics as well as diagnosis, treatment, and prognosis of human diseases.© 2023. Sichuan International Medical Exchange & Promotion Association.