The aim of this study was to demonstrate the altered metabolic infrastructure of pregnant women with methylenetetrahydrofolate reductase (MTHFR) polymorphisms at first trimester and during delivery. Eight singleton pregnant women with MTHFR polymorphisms were compared with 10 normal pregnant women. Maternal blood samples were obtained twice during their pregnancy period (between the 11th and 14th gestational weeks and during delivery). Metabolomic analysis was performed using GC–MS. The GC–MS based metabolomic profile helped identify 95 metabolites in the plasma samples. In the MTHFR group, the levels of 1‐monohexadecanoylglycerol, pyrophosphate, benzoin, and linoleic acid significantly decreased (P ˂ 0.05 for all), whereas the levels of glyceric acid, l ‐tryptophan, l ‐alanine, l ‐proline, norvaline, l ‐threonine, and myo‐inositol significantly increased (P ˂ 0.01 for the first two metabolites, P ˂ 0.05 for the others) at 11–14 gestational weeks. Conversely, the levels of benzoin, 1‐monohexadecanoylglycerol, pyruvic acid, l ‐proline, phosphoric acid, epsilon‐caprolactam, and pipecolic acid significantly decreased in the MTHFR group, whereas metabolites such as hexadecanoic acid and 2‐hydroxybutyric acid increased significantly in the study group during delivery. An impaired energy metabolism pathway, vitamin B complex disorders, tendency for metabolic acidosis (oxidative stress), and the need for cell/tissue support seem prevalent in pregnancies with MTHFR polymorphisms.

中文翻译：

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亚甲基四氢叶酸还原酶多态性孕妇的代谢基础设施：代谢组学分析。

这项研究的目的是证明孕妇在孕早期和分娩过程中亚甲基四氢叶酸还原酶（MTHFR）多态性的代谢基础设施发生了变化。比较了八名具有MTHFR多态性的单身孕妇与十名正常孕妇。在怀孕期间（在怀孕的第11周和第14周之间以及分娩期间）两次抽取了孕妇血液。使用GC-MS进行代谢组学分析。基于GC-MS的代谢组学谱有助于鉴定血浆样品中的95种代谢物。在MTHFR组中，1-单十六烷酰甘油，焦磷酸盐，安息香和亚油酸的水平显着下降（所有P均<0.05），而甘油酸l-色氨酸l丙氨酸，升-脯氨酸，正缬氨酸，升-苏氨酸，和肌醇显著增加（P ˂0.01用于第一两种代谢物，P在11-14孕周˂0.05为其他）。相反地，苯偶姻，1- monohexadecanoylglycerol，丙酮酸，水平升在MTHFR组中，脯氨酸，磷酸，ε-己内酰胺和胡椒酸显着减少，而研究组在分娩过程中十六烷酸和2-羟基丁酸等代谢产物显着增加。能量代谢途径受损，维生素B复合体紊乱，代谢性酸中毒趋势（氧化应激）以及对细胞/组织支持的需求似乎在具有MTHFR多态性的孕妇中盛行。