Gupta Latika, Ahmed Sakir, Jain Avinash, Misra Ramnath
Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Int J Rheum Dis. 2018 Aug;21(8):1468-1477. doi: 10.1111/1756-185X.13353.
The pursuit for understanding disease pathogenesis, in this age of rapid laboratory diagnostics and fast-paced research, has led scientists worldwide to take recourse in hypothesis-free approaches for molecular diagnosis. Metabolomics is one such powerful tool that explores comprehensibly the metabolic alternations in human diseases. It involves study of small molecules of less than 1 kD in size by either LSMS or nuclear magnetic resonance. Unlike genomics, which tells us what may have happened, metabolomics reflects what did happen. The NMR technique has an advantage of analyzing metabolites without sample preparation, thereby diminishing artifacts, is less cumbersome and with the latest database on Metabolome; about 30 000 metabolites can be identified. The study of metabolomics for several rheumatic diseases, including rheumatoid arthritis, lupus, osteoarthritis and vasculitis, has revealed distinctive metabolic signatures. Thus, metabolomics is a technique that promises precision medicine with better biomarkers, robust predictors of drug response and of disease outcome, discovery of newer metabolites and pathways in disease pathogenesis, and finally, targeted drug development. This review intends to decipher its relevance in common rheumatic diseases.
在这个实验室诊断迅速发展且研究节奏紧凑的时代,对疾病发病机制的探索促使全球科学家采用无假设的分子诊断方法。代谢组学就是这样一种强大的工具,它能全面探究人类疾病中的代谢变化。它通过液相色谱 - 质谱联用(LSMS)或核磁共振研究大小小于1千道尔顿的小分子。与基因组学不同,基因组学告诉我们可能发生了什么,而代谢组学反映的是实际发生了什么。核磁共振技术具有无需样品制备就能分析代谢物的优势,从而减少人为因素的影响,操作更简便,并且拥有最新的代谢组数据库,大约可以识别30000种代谢物。对包括类风湿性关节炎、狼疮、骨关节炎和血管炎在内的几种风湿性疾病的代谢组学研究已经揭示了独特的代谢特征。因此,代谢组学是一种有望实现精准医学的技术,它能提供更好的生物标志物、药物反应和疾病预后的可靠预测指标,发现疾病发病机制中的新代谢物和新途径,最终实现靶向药物开发。本综述旨在解读其在常见风湿性疾病中的相关性。