Lorefice Lorena, Pitzalis Maristella, Murgia Federica, Fenu Giuseppe, Atzori Luigi, Cocco Eleonora
Multiple Sclerosis Center, Binaghi Hospital, ASL Cagliari, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Institute for Genetic and Biomedical Research, National Research Council, Cagliari, Italy.
Front Genet. 2023 Jan 30;14:1076421. doi: 10.3389/fgene.2023.1076421. eCollection 2023.
From the perspective of precision medicine, the challenge for the future is to improve the accuracy of diagnosis, prognosis, and prediction of therapeutic responses through the identification of biomarkers. In this framework, the sciences (genomics, transcriptomics, proteomics, and metabolomics) and their combined use represent innovative approaches for the exploration of the complexity and heterogeneity of multiple sclerosis (MS). This review examines the evidence currently available on the application of omics sciences to MS, analyses the methods, their limitations, the samples used, and their characteristics, with a particular focus on biomarkers associated with the disease state, exposure to disease-modifying treatments (DMTs), and drug efficacies and safety profiles.
从精准医学的角度来看，未来的挑战是通过识别生物标志物来提高诊断、预后和治疗反应预测的准确性。在此框架下，多组学科学（基因组学、转录组学、蛋白质组学和代谢组学）及其联合应用代表了探索多发性硬化症（MS）复杂性和异质性的创新方法。本综述考察了目前关于多组学科学在MS中应用的现有证据，分析了方法、其局限性、所使用的样本及其特征，特别关注与疾病状态、疾病修饰治疗（DMTs）暴露以及药物疗效和安全性相关的生物标志物。
