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小胖威利综合征和天使综合征是两种在15号染色体长臂(15q11-q13)发生基因变异的遗传性疾病。本研究对这两种细胞株的培养液开展基于高效液相色谱-质谱联用的代谢物组学数据收集,并利用XCMS在线分析平台对代谢产物组进行全局对比分析。通过Metlin数据库筛查代谢物组差异分析所命中的代谢产物,进一步依据Bio Cyc Pathway数据库绘制出包含这些显著差异代谢物结点的代谢网络通路。数据分析共发现了70种显著差异的代谢物和36个被高度覆盖的代谢通路,在此基础上探究了首次发现的、在代谢差异分析中最为显著的吗啡生物合成和尼古丁降解通路与疾病表型的潜在关联性,为遗传疾病的无损分子诊断提供了代谢组学基础和生物标志物候选靶标。
Chubby Willie Syndrome and Angel Syndrome are two genetic disorders that cause genetic variation in the long arm of chromosome 15 (15q11-q13). In this study, metabolomic metabolomics data collection based on high performance liquid chromatography-mass spectrometry (LC-MS / MS) was carried out on the culture medium of these two cell lines, and the global metabolite groups were compared using XCMS online analysis platform. Metabolome differences were screened by the Metlin database for metabolites metabolites, and further metabolic network pathways containing these significantly different metabolite junctions were mapped according to the Bio Cyc Pathway database. A total of 70 significantly different metabolites and 36 highly covered metabolic pathways were found in the data analysis. Based on this finding, the most notable morphine biosynthesis and nicotine degradation pathways and disease tables first discovered in the metabolic differences analysis Type potential association provides a metabonomics basis and a biomarker candidate for the non-destructive molecular diagnosis of genetic diseases.