Department of Neurosciences and Neurology, UMDNJ-New Jersey Medical School, Newark, New Jersey 07103, United States.
J Proteome Res. 2012 Dec 7;11(12):5856-62. doi: 10.1021/pr300910n. Epub 2012 Nov 9.
Autism spectrum disorders (ASD) are a group of biological disorders with associated metabolic derangement. This study aimed to identify a pattern of metabolic perturbance in ASD using metabolomics in urinary specimens from 48 children with ASD and 53 age matched controls. Using a combination of liquid- and gas-chromatography-based mass spectrometry, we detected the levels of 82 metabolites (53 of which were increased) that were significantly altered between the ASD and the control groups using osmolality normalized data. Pattern analysis showed that the levels of several amino acids such as glycine, serine, threonine, alanine, histidine, glutamyl amino acids and the organic acid, taurine were significantly (p≤0.05) lower in ASD children. The levels of antioxidants such as carnosine were also reduced in ASD (p=0.054). Furthermore, several gut bacterial metabolites were significantly altered in ASD children who had gastrointestinal dysfunction. Overall, this study detected abnormal amino acid metabolism, increased oxidative stress, and altered gut microbiomes in ASD. The relationship of altered gut microbial co-metabolism and the disrupted metabolisms requires further investigation.
自闭症谱系障碍（ASD）是一组与代谢紊乱相关的生物学障碍。本研究旨在使用代谢组学方法，分析 48 名自闭症儿童和 53 名年龄匹配的对照者尿液样本中的代谢紊乱模式。通过结合液质和气质联用技术，我们检测到了 82 种代谢物的水平（其中 53 种代谢物增加），并使用渗透压标准化数据发现 ASD 组和对照组之间存在显著差异。模式分析显示，自闭症儿童体内的几种氨基酸（如甘氨酸、丝氨酸、苏氨酸、丙氨酸、组氨酸、谷氨酰基氨基酸和有机酸牛磺酸）水平明显降低（p≤0.05）。抗氧化剂如肌肽的水平也降低了（p=0.054）。此外，有胃肠道功能障碍的自闭症儿童的几种肠道细菌代谢物也发生了显著改变。总的来说，本研究在 ASD 中检测到了异常的氨基酸代谢、增加的氧化应激和改变的肠道微生物组。改变的肠道微生物共代谢与代谢紊乱的关系需要进一步研究。
