Xu Xin-Jie, Cai Xiao-E, Meng Fan-Chao, Song Tian-Jia, Wang Xiao-Xi, Wei Yi-Zhen, Zhai Fu-Jun, Long Bo, Wang Jun, You Xin, Zhang Rong
Medical Science Research Center, Research Center for Translational Medicine, Department of Scientific Research, Peking Union Medical College Hospital, Beijing, China.
Key Laboratory for Neuroscience, Ministry of Education of China, Neuroscience Research Institute, Beijing, China.
Front Psychiatry. 2021 Jun 4;12:657105. doi: 10.3389/fpsyt.2021.657105. eCollection 2021.
Autism spectrum disorder (ASD) is defined as a pervasive developmental disorder which is caused by genetic and environmental risk factors. Besides the core behavioral symptoms, accumulated results indicate children with ASD also share some metabolic abnormalities. To analyze the comprehensive metabolic profiles in both of the first-morning urine and plasma samples collected from the same cohort of autistic boys. In this study, 30 autistic boys and 30 tightly matched healthy control (HC) boys (age range: 2.4~6.7 years) were recruited. First-morning urine and plasma samples were collected and the liquid chromatography-mass spectrometry (LC-MS) was applied to obtain the untargeted metabolic profiles. The acquired data were processed by multivariate analysis and the screened metabolites were grouped by metabolic pathway. Different discriminating metabolites were found in plasma and urine samples. Notably, taurine and catechol levels were decreased in urine but increased in plasma in the same cohort of ASD children. Enriched pathway analysis revealed that perturbations in taurine and hypotaurine metabolism, phenylalanine metabolism, and arginine and proline metabolism could be found in both of the plasma and urine samples. These preliminary results suggest that a series of common metabolic perturbations exist in children with ASD, and confirmed the importance to have a comprehensive analysis of the metabolites in different biological samples to reveal the full picture of the complex metabolic patterns associated with ASD. Further targeted analyses are needed to validate these results in a larger cohort.
自闭症谱系障碍（ASD）被定义为一种由遗传和环境风险因素引起的广泛性发育障碍。除了核心行为症状外，累积的结果表明，患有ASD的儿童也存在一些代谢异常。为了分析从同一队列的自闭症男孩中收集的晨尿和血浆样本中的综合代谢谱。在本研究中，招募了30名自闭症男孩和30名匹配良好的健康对照（HC）男孩（年龄范围：2.4至6.7岁）。收集晨尿和血浆样本，并应用液相色谱 - 质谱联用（LC-MS）来获得非靶向代谢谱。对获取的数据进行多变量分析处理，并将筛选出的代谢物按代谢途径分组。在血浆和尿液样本中发现了不同的鉴别性代谢物。值得注意的是，在同一队列的ASD儿童中，尿液中的牛磺酸和儿茶酚水平降低，而血浆中的水平升高。富集途径分析表明，在血浆和尿液样本中均发现牛磺酸和次牛磺酸代谢、苯丙氨酸代谢以及精氨酸和脯氨酸代谢存在扰动。这些初步结果表明，ASD儿童存在一系列常见的代谢扰动，并证实了对不同生物样本中的代谢物进行综合分析以揭示与ASD相关的复杂代谢模式全貌的重要性。需要进一步的靶向分析以在更大的队列中验证这些结果。
