Abstract：
Wilson disease (WD) is an autosomal recessive disorder characterized by abnormal copper metabolism. The accumulation of copper in the liver can progress to liver fibrosis and, ultimately, cirrhosis, which is a primary cause of death in WD patients. Metabonomic technology offers an effective approach to investigate the traditional Chinese medicine (TCM) syndrome types of WD-related liver fibrosis by monitoring the alterations in small molecule metabolites within the body. In this study, we employed 1H-Nuclear Magnetic Resonance (1H NMR) metabonomics to assess the metabolic profiles associated with five TCM syndrome types of WD-related liver fibrosis and analyzed the diagnostic and predictive capabilities of various metabolites. The study found a variety of metabolites, each with varying levels of diagnostic and predictive capabilities. Furthermore, the discerned differential metabolic pathways were primarily associated with various pathways involving carbohydrate metabolism, amino acid metabolism, and lipid metabolism. This study has identified various characteristic metabolic markers and pathways associated with different TCM syndromes of liver fibrosis in WD, providing a substantial foundation for investigating the mechanisms underlying these TCM syndromes.
摘要：
Wilson病（WD）是一种常染色体隐性遗传疾病，其特征是铜代谢异常。铜在肝脏中的积累可以进展为肝纤维化,最终,肝硬化,这是WD患者死亡的主要原因。代谢组学技术通过监测体内小分子代谢物的变化，为研究WD相关肝纤维化的中医证型提供了有效的方法。在这项研究中,我们采用1H-核磁共振(1HNMR)代谢组学评估与WD相关肝纤维化的5种中医证型相关的代谢谱,并分析了各种代谢物的诊断和预测能力.研究发现了多种代谢产物,每个都有不同水平的诊断和预测能力。此外，识别的差异代谢途径主要与涉及碳水化合物代谢的各种途径有关，氨基酸代谢，和脂质代谢。本研究已经确定了各种特征性的代谢标志物和通路与不同中医证型的肝纤维化相关。为研究这些中医证型的潜在机制提供了坚实的基础。
