RNA modifications in health and disease: from mechanistic insights to therapeutic applications

RNA modifications encompass a series of dynamic chemical changes and editing events on RNA molecules, playing a pivotal role in essential physiological processes such as embryonic development, immune response, and the maintenance of cell homeostasis. By influencing RNA stability, splicing, translation, and intermolecular interactions, RNA modifications serve as crucial mechanisms regulating gene expression at the post-transcriptional level. Dysregulation of the modification machineries or aberrant modification patterns is closely associated with the onset and progression of various diseases, including tumors, metabolic disorders, cardiovascular diseases, and neurological and immune conditions, making them potential biomarkers for disease diagnosis, prognosis, and treatment. In this review, we summarize the molecular mechanisms of major RNA modifications, emphasize their functions in health and disease, and discuss their diagnostic and therapeutic value in pathological contexts.