Data_Sheet_1_Liquid chromatography coupled to mass spectrometry metabolomic analysis of cerebrospinal fluid revealed the metabolic characteristics of moyamoya disease.XLSX

ObjectiveMetabolomics has found extensive applications in the field of neurological diseases, significantly contributing to their diagnosis and treatment. However, there has been limited research applying metabolomics to moyamoya disease (MMD). This study aims to investigate and identify differential metabolites associated with MMD.
MethodsWe employed a liquid chromatography coupled with mass spectrometry (LC-MS) approach, complemented by univariate and multivariate analyses, to discern metabolic biomarkers in cerebrospinal fluid samples. We then compared these biomarkers between MMD patients and healthy controls (Ctl).
ResultsSixteen patients diagnosed with MMD via cerebral angiography and eight healthy controls were enrolled in this study. Comparative analyses, including univariate and multivariate analyses, correlation studies, heatmaps, Volcano Plots, and KEGG pathway enrichment, were performed between MMD patients and controls. As a result, we identified 129 significant differential metabolites in the cerebrospinal fluid between MMD patients and controls. These metabolic biomarkers are associated with various pathways, with notable involvement in purine and pyrimidine metabolism.
ConclusionUtilizing an LC-MS-based metabolomics approach holds promise for enhancing the clinical diagnosis of MMD. The identified biomarkers offer potential avenues for the development of novel diagnostic methods for MMD and offer fresh insights into the pathogenesis of the disease.

目标代谢组学（ObjectiveMetabolomics）已在神经系统疾病领域获得广泛应用，为这类疾病的诊断与治疗作出了重要贡献。但将代谢组学应用于烟雾病（moyamoya disease, MMD）的相关研究仍较为匮乏。本研究旨在探究并鉴定与烟雾病相关的差异代谢物。
方法 本研究采用液相色谱-质谱联用（liquid chromatography coupled with mass spectrometry, LC-MS）技术，结合单变量分析与多变量分析方法，对脑脊液样本中的代谢生物标志物进行甄别，并对比烟雾病患者与健康对照（Ctl）的代谢特征差异。
结果 本研究共纳入经脑血管造影确诊的烟雾病患者16例，以及8名健康对照。通过单变量分析、多变量分析、相关性分析、热图分析、火山图分析及京都基因与基因组百科全书（Kyoto Encyclopedia of Genes and Genomes, KEGG）通路富集分析等手段，对两组样本进行对比分析。最终在两组的脑脊液样本中鉴定出129个具有显著差异的代谢物。这些代谢生物标志物参与多条代谢通路，其中嘌呤代谢与嘧啶代谢通路的富集最为显著。
结论 本研究采用基于液相色谱-质谱联用的代谢组学方法，有望助力烟雾病的临床诊断工作。所鉴定出的代谢生物标志物可为烟雾病新型诊断方法的研发提供潜在方向，同时为该病的发病机制研究提供全新视角。