Baogang Xie, Dujuan Zhan, Le Wu, Lele Wang, Yongrong Lei, Meng Liu, Xiaodan Liu, Suping Li
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Among these, N,N-dimethylglycine (DMG) exhibited the most significant reduction in the CHDP group (1.07 ± 0.03 vs. 1.55 ± 0.04 µg/mL, <i>p</i> < 0.001), with an area under the ROC curve (AUROC) of 0.883 in the discovery cohort. Validation in an independent cohort (58 CHDP vs. 62 ZCP) confirmed DMG’s diagnostic potential (AUROC = 0.818). While betaine-homocysteine methyltransferase 2 (BHMT2) activity showed no intergroup differences, DMG’s consistent performance highlights its utility as a non-invasive biomarker. 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引用次数: 0
摘要
先天性心脏病（CHD）由于产前早期诊断的局限性，给临床带来了重大挑战。本研究旨在利用联合代谢组学方法鉴定冠心病的血清代谢生物标志物。通过非靶向1HNMR代谢组学分析了55例确诊冠心病孕妇（CHDP组）和49例健康对照（ZCP组）的血清样本，揭示了不同的代谢特征。采用超高效液相色谱-串联质谱（UPLC-MS/MS）对6种胆碱途径代谢物进行定量分析。其中，N，N-二甲基甘氨酸（DMG）在CHDP组的减少最为显著(1.07±0.03 vs. 1.55±0.04µg/mL, p
Identification of serum N,N-dimethylglycine as a potential biomarker for prenatal diagnosis of congenital heart disease using 1HNMR and UPLC-MS/MS metabonomics
Congenital heart disease (CHD) poses significant clinical challenges due to limitations in early prenatal diagnosis. This study aimed to identify serum metabolic biomarkers for CHD using a combined metabolomics approach. Serum samples from 55 pregnant women carrying fetuses with confirmed CHD (CHDP group) and 49 healthy controls (ZCP group) were analyzed via non-targeted 1HNMR metabolomics, revealing distinct metabolic profiles. Six choline pathway metabolites were further quantified by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). Among these, N,N-dimethylglycine (DMG) exhibited the most significant reduction in the CHDP group (1.07 ± 0.03 vs. 1.55 ± 0.04 µg/mL, p < 0.001), with an area under the ROC curve (AUROC) of 0.883 in the discovery cohort. Validation in an independent cohort (58 CHDP vs. 62 ZCP) confirmed DMG’s diagnostic potential (AUROC = 0.818). While betaine-homocysteine methyltransferase 2 (BHMT2) activity showed no intergroup differences, DMG’s consistent performance highlights its utility as a non-invasive biomarker. This study underscores the clinical value of metabonomics in prenatal CHD screening and establishes DMG as a promising diagnostic marker, potentially improving early detection and perinatal management.
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