Zhai Guangju
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL A1B 3V6, Canada.
Metabolites. 2019 Jan 9;9(1):11. doi: 10.3390/metabo9010011.
Sir Archibald Edward Garrod, who pioneered the field of inborn errors of metabolism and first elucidated the biochemical basis of alkaptonuria over 100 years ago, suggested that inborn errors of metabolism were "merely extreme examples of variations of chemical behavior which are probably everywhere present in minor degrees, just as no two individuals of a species are absolutely identical in bodily structure neither are their chemical processes carried out on exactly the same lines", and that this "chemical individuality [confers] predisposition to and immunities from various mishaps which are spoken of as diseases". Indeed, with advances in analytical biochemistry, especially the development of metabolomics in the post-genomic era, emerging data have been demonstrating that the levels of many metabolites do show substantial interindividual variation, and some of which are likely to be associated with common diseases, such as osteoarthritis (OA). Much work has been reported in the literature on the metabolomics of OA in recent years. In this narrative review, we provided an overview of the identified alteration of metabolic pathways in OA and discussed the role of those identified metabolites and related pathways in OA diagnosis, prognosis, and treatment.
阿奇博尔德·爱德华·加罗德爵士是先天性代谢缺陷领域的先驱，100多年前他首次阐明了黑尿症的生化基础。他提出，先天性代谢缺陷“仅仅是化学行为变异的极端例子，而这种变异可能在任何地方都以较小的程度存在。就像一个物种中没有两个个体的身体结构完全相同一样，他们的化学过程也不会完全按照相同的方式进行”，并且这种“化学个性[赋予了]对各种被称为疾病的不幸事件的易感性和免疫力”。事实上，随着分析生物化学的进步，尤其是后基因组时代代谢组学的发展，新出现的数据表明，许多代谢物的水平确实存在很大的个体间差异，其中一些可能与常见疾病有关，如骨关节炎（OA）。近年来，文献中报道了许多关于OA代谢组学的研究工作。在这篇叙述性综述中，我们概述了OA中已确定的代谢途径改变，并讨论了这些已确定的代谢物和相关途径在OA诊断、预后和治疗中的作用。
