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代谢组学与个性化医疗

Metabolomics toward personalized medicine.

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh, Saudi Arabia.

Department of Molecular and Cell Biology, Australian Institute of Tropical Health and Medicine, James Cook University, Townsville, QLD, Australia.

出版信息

Mass Spectrom Rev. 2019 May;38(3):221-238. doi: 10.1002/mas.21548. Epub 2017 Oct 26.

Abstract

Metabolomics, which is the metabolites profiling in biological matrices, is a key tool for biomarker discovery and personalized medicine and has great potential to elucidate the ultimate product of the genomic processes. Over the last decade, metabolomics studies have identified several relevant biomarkers involved in complex clinical phenotypes using diverse biological systems. Most diseases result in signature metabolic profiles that reflect the sums of external and internal cellular activities. Metabolomics has a major role in clinical practice as it represents >95% of the workload in clinical laboratories worldwide. Many of these metabolites require different analytical platforms, such as Nuclear Magnetic Resonance (NMR), Mass Spectrometry (MS), and Ultra Performance Liquid Chromatography (UPLC), while many clinically relevant metabolites are still not routinely amenable to detection using currently available assays. Combining metabolomics with genomics, transcriptomics, and proteomics studies will result in a significantly improved understanding of the disease mechanisms and the pathophysiology of the target clinical phenotype. This comprehensive approach will represent a major step forward toward providing precision medical care, in which individual is accounted for variability in genes, environment, and personal lifestyle. In this review, we compare and evaluate the metabolomics strategies and studies that focus on the discovery of biomarkers that have "personalized" diagnostic, prognostic, and therapeutic value, validated for monitoring disease progression and responses to various management regimens.

摘要

代谢组学是对生物基质中的代谢物进行分析的一种方法,是发现生物标志物和个体化医学的重要工具,对于阐明基因组过程的最终产物具有巨大的潜力。在过去的十年中,代谢组学研究已经使用多种生物系统鉴定了与复杂临床表型相关的几种相关生物标志物。大多数疾病都会导致反映外部和内部细胞活动总和的特征代谢谱。代谢组学在临床实践中具有重要作用,因为它代表了全球临床实验室 95%以上的工作量。这些代谢物中的许多都需要不同的分析平台,如核磁共振(NMR)、质谱(MS)和超高效液相色谱(UPLC),而许多具有临床相关性的代谢物仍然无法使用现有检测方法常规检测。将代谢组学与基因组学、转录组学和蛋白质组学研究相结合,将显著提高对疾病机制和目标临床表型病理生理学的理解。这种综合方法将是朝着提供个体化医疗迈出的重要一步,在个体化医疗中,要考虑到个体的基因、环境和个人生活方式的变异性。在这篇综述中,我们比较和评估了专注于发现具有“个体化”诊断、预后和治疗价值的生物标志物的代谢组学策略和研究,这些标志物已经过验证可用于监测疾病进展和对各种治疗方案的反应。

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