Qureshi Fatir, Adams James, Coleman Devon, Quig David, Hahn Juergen
Department of Biomedical Engineering, Rensselaer Polytechnic Institute, Troy, NY, United States.
Center for Biotechnology and Interdisciplinary Studies, Rensselaer Polytechnic Institute, Troy, NY, United States.
Res Autism Spectr Disord. 2020 Apr;72. doi: 10.1016/j.rasd.2020.101518. Epub 2020 Feb 6.
Even though the cause of autism spectrum disorders (ASD) remains unknown, the current understanding points towards complex interactions between environmental and genetic factors. One important environmental factor to consider is intake of toxic and essential elements, and their role in metabolism. Essential elements have received considerably less attention in the literature than the presence of toxins in urine.
The purpose of this investigation is to comprehensively assess the association between urinary element compositions of 28 mothers who had young children with ASD and 29 mothers who had young typically developing (TD) children, and in a subset of their children (21 with ASD and 26 TD).
The results show that there are significant differences between the ASD and TD children cohorts' concentrations for four specific elements (sulfur, phosphorous, molybdenum, and tin). Utilizing multivariate statistical techniques (Fisher's discriminant analysis and support vector machines), it was possible to distinguish the ASD from the TD children groups with an 81% accuracy after cross-validation utilizing the four significantly different elements. However, among the mother cohorts assessed, there were no significant differences between those that had children with ASD and those with TD children. There was a significant correlation of levels of phosphorus and sulfur in the children with ASD (r = 0.63, p = 3.0E-3) and in the TD children (r = 0.47, p = 0.02).
Notable differences were observed between the elemental concentration in urine of children with ASD and their TD peers. Analyzing cellular pathways related to these elements are promising areas of future research.
尽管自闭症谱系障碍(ASD)的病因尚不清楚,但目前的认识指向环境因素与遗传因素之间的复杂相互作用。一个需要考虑的重要环境因素是有毒元素和必需元素的摄入及其在新陈代谢中的作用。与尿液中毒素的存在相比,必需元素在文献中受到的关注要少得多。
本研究的目的是全面评估两组母亲及其部分孩子尿液中元素组成的关联,一组是28名患有ASD幼儿的母亲,另一组是29名孩子发育正常(TD)的母亲,其孩子子集分别为21名患有ASD的儿童和26名发育正常的儿童。
结果表明,ASD儿童队列和发育正常儿童队列中四种特定元素(硫、磷、钼和锡)的浓度存在显著差异。利用多元统计技术(费舍尔判别分析和支持向量机),在使用这四种显著不同的元素进行交叉验证后,可以以81%的准确率区分ASD儿童组和发育正常儿童组。然而,在评估的母亲队列中,有ASD孩子的母亲和有发育正常孩子的母亲之间没有显著差异。ASD儿童和发育正常儿童体内磷和硫的水平存在显著相关性(ASD儿童中r = 0.63,p = 3.0E - 3;发育正常儿童中r = 0.47,p = 0.02)。
观察到ASD儿童与其发育正常的同龄人尿液中的元素浓度存在显著差异。分析与这些元素相关的细胞途径是未来研究的有前景的领域。