Nazifova-Tasinova Neshe, Radeva Mladena, Galunska Bistra, Grupcheva Christina
Department of Biochemistry, Molecular medicine and Nutrigenomics, Faculty of Pharmacy, Medical University of Varna, 84 Tzar Osvoboditel street, 9000 Varna, Bulgaria.
Department of Ophthalmology and Visual Sciences, Faculty of Medicine, Medical University of Varna, 15 Doyran street, 9000 Varna, Bulgaria.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Sep;164(3):236-246. doi: 10.5507/bp.2020.028. Epub 2020 Jul 17.
Modern science takes into account phenotype complexity and establishes approaches to track changes on every possible level. Many "omics" studies have been developed over the last decade. Metabolomic analysis enables dynamic measurement of the metabolic response of a living system to a variety of stimuli or genetic modifications. Important targets of metabolomics is biomarker development and translation to the clinic for personalized diagnosis and a greater understanding of disease pathogenesis. The current review highlights the major aspects of metabolomic analysis and its applications for the identification of relevant predictive, diagnostic and prognostic biomarkers for some ocular diseases including dry eye, keratoconus, retinal diseases, macular degeneration, and glaucoma. To date, possible biomarker candidates for dry eye disease are lipid metabolites and androgens, for keratoconus cytokeratins, urea, citrate cycle, and oxidative stress metabolites. Palmitoylcarnitine, sphingolipids, vitamin D related metabolites, and steroid precursors may be used for distinguishing glaucoma patients from healthy controls. Dysregulation of amino acid and carnitine metabolism is critical in the development and progression of diabetic retinopathy. Further work is needed to discover and validate metabolic biomarkers as a powerful tool for understanding the molecular mechanisms of ocular diseases, to provide knowledge on their etiology and pathophysiology and opportunities for personalized clinical intervention at an early stage.
现代科学考虑到表型的复杂性，并建立了在各个可能层面追踪变化的方法。在过去十年中开展了许多“组学”研究。代谢组学分析能够动态测量生物系统对各种刺激或基因修饰的代谢反应。代谢组学的重要目标是开发生物标志物并将其转化应用于临床，以实现个性化诊断并更深入地了解疾病发病机制。本综述重点介绍了代谢组学分析的主要方面及其在识别某些眼部疾病（包括干眼症、圆锥角膜、视网膜疾病、黄斑变性和青光眼）相关的预测性、诊断性和预后生物标志物方面的应用。迄今为止，干眼症可能的生物标志物候选物是脂质代谢物和雄激素，圆锥角膜的是细胞角蛋白、尿素、柠檬酸循环和氧化应激代谢物。棕榈酰肉碱、鞘脂、维生素D相关代谢物和类固醇前体可用于区分青光眼患者和健康对照。氨基酸和肉碱代谢失调在糖尿病视网膜病变的发生和发展中至关重要。需要进一步开展工作来发现和验证代谢生物标志物，将其作为理解眼部疾病分子机制的有力工具，以提供有关其病因和病理生理学的知识，并为早期个性化临床干预创造机会。
