Patra Shinjan, Dutta Deep, Kalra Sanjay
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Kalyani, West Bengal, India.
Department of Endocrinology, Center for Endocrinology Diabetes Arthritis and Rheumatism (CEDAR) Superspeciality Healthcare, Dwarka, New Delhi, India.
Indian J Endocrinol Metab. 2025 Jul-Aug;29(4):394-401. doi: 10.4103/ijem.ijem_488_24. Epub 2025 Aug 26.
Metabolomics is a type of laboratory science used to understand the cellular and metabolic defects in any disease process. It comprehensively identifies endogenous and exogenous low-molecular-weight (<1 kDa) molecules or metabolites in a high-throughput manner. Mass spectrometry-based methods are used for metabolomics which can be targeted and non-targeted. Metabolomics workflow consists of sample acquisition, its preparation and extraction, separation, ionisation, data analysis, and metabolite detection and identification. Some of the commonly elevated metabolomes are branched-chain amino acids like isoleucine, leucine, and valine in diabetes, carnitine and glutamate in osteoporosis, deoxycholic acid and betahydroxybutyrate in pituitary tumours, glutamic acid, valine, isoleucine for malignant thyroid nodules, L-asparagine, L-glutamine, dimethylarginine for hyperparathyroidism, tetrahydro-11-doxycortisol for adrenal tumours, and oxidised glutathione for hypogonadism. Knowing metabolomics can help us formulate personalised treatment choices for precision medicine in endocrinology. The main challenge ahead of metabolomics is its technical complexity and cost-benefit issues.
代谢组学是一种实验室科学，用于了解任何疾病过程中的细胞和代谢缺陷。它以高通量方式全面鉴定内源性和外源性低分子量（<1 kDa）分子或代谢物。基于质谱的方法用于代谢组学，可分为靶向和非靶向方法。代谢组学工作流程包括样品采集、制备与提取、分离、电离、数据分析以及代谢物检测与鉴定。一些常见的代谢物水平升高的情况包括：糖尿病中异亮氨酸、亮氨酸和缬氨酸等支链氨基酸；骨质疏松症中的肉碱和谷氨酸；垂体瘤中的脱氧胆酸和β-羟基丁酸；恶性甲状腺结节中的谷氨酸、缬氨酸、异亮氨酸；甲状旁腺功能亢进中的L-天冬酰胺、L-谷氨酰胺、二甲基精氨酸；肾上腺肿瘤中的四氢-11-脱氧皮质醇；性腺功能减退中的氧化型谷胱甘肽。了解代谢组学有助于我们为内分泌学中的精准医学制定个性化治疗方案。代谢组学面临的主要挑战是其技术复杂性和成本效益问题。
