Altered plasma levels of arachidonic acid, choline, amino acids, and sphingolipids signal neural tube defects

Neural tube defects (NTDs) are common congenital anomalies formed by the incomplete closure of the neural tube during early embryonic development. This study aims to identify potential plasma biomarkers associated with NTDs using an untargeted metabolomics approach, thereby enhancing the understanding of the disease pathogenesis and facilitating early diagnosis. Peripheral venous blood samples were obtained from 21 healthy controls and 20 individuals diagnosed with NTDs. Untargeted metabolomic profiling was performed using Quadrupole Time-of-Flight Liquid Chromatography Mass Spectrometry (Q-TOF LC/MS) in positive ion mode. Data processing was conducted using the XCMS package in R, thus identifying significant metabolites based on a fold change greater than 1.5 and a p-value less than 0.05. The analysis revealed significant alterations in several metabolites in NTD cases compared to the healthy controls. Notably, changes were observed in arachidonic acid and prostaglandins (lipid metabolism), choline (methylation processes), amino acids such as leucine, phenylalanine, and lysine (amino acid metabolism), thyrotropin-releasing hormone, vitamin D3, cob(II)alamin, and galactosylsphingosine (sphingolipid metabolism). The identified metabolites may play a role in the pathogenesis of NTDs and hold potential as early diagnostic biomarkers.