利用代谢组学推进癫痫研究。

Departments of Laboratory Medicine, of Neurosurgery, and of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

Clinical Chemistry Laboratory, Yale-New Haven Hospital, New Haven, CT, USA.

Epilepsy Curr. 2022 Feb 17;22(2):123-129. doi: 10.1177/15357597221074518. eCollection 2022 Mar-Apr.

Metabolomics is the laboratory analysis and scientific study of the metabolome-that is, the entire collection of small molecule chemicals in an organism. The metabolome represents the functional state of an organism and provides a multifaceted readout of the aggregate activity of endogenous (cellular) and exogenous (environmental) processes. In this review, we discuss how the integrative and dynamic properties of the metabolome create unique opportunities to study complex pathologies that evolve and oscillate over time, like epilepsy. We explain how the scientific progress and clinical applications of metabolomics remain hampered by biological and technical challenges, and we propose best practices to overcome these challenges so that metabolomics can be used in a rigorous and effective manner to further epilepsy research.

代谢组学是对代谢组进行实验室分析和科学研究，代谢组即生物体中小分子化学物质的全部集合。代谢组代表了生物体的功能状态，并提供了内源性（细胞）和外源性（环境）过程综合活动的多方面读数。在本综述中，我们讨论了代谢组的整合性和动态特性如何为研究随时间演变和波动的复杂病症（如癫痫）创造独特机会。我们解释了代谢组学的科学进展和临床应用如何仍然受到生物学和技术挑战的阻碍，并提出了克服这些挑战的最佳实践，以便能够以严谨有效的方式利用代谢组学进一步开展癫痫研究。