James S Jill, Melnyk Stepan, Jernigan Stefanie, Hubanks Amanda, Rose Shannon, Gaylor David W
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
J Autism Dev Disord. 2008 Nov;38(10):1966-75. doi: 10.1007/s10803-008-0591-5. Epub 2008 May 30.
An integrated metabolic profile reflects the combined influence of genetic, epigenetic, and environmental factors that affect the candidate pathway of interest. Recent evidence suggests that some autistic children may have reduced detoxification capacity and may be under chronic oxidative stress. Based on reports of abnormal methionine and glutathione metabolism in autistic children, it was of interest to examine the same metabolic profile in the parents. The results indicated that parents share similar metabolic deficits in methylation capacity and glutathione-dependent antioxidant/detoxification capacity observed in many autistic children. Studies are underway to determine whether the abnormal profile in parents reflects linked genetic polymorphisms in these pathways or whether it simply reflects the chronic stress of coping with an autistic child.
综合代谢谱反映了影响相关候选通路的遗传、表观遗传和环境因素的综合作用。最近的证据表明，一些自闭症儿童的解毒能力可能降低，并且可能处于慢性氧化应激状态。基于自闭症儿童甲硫氨酸和谷胱甘肽代谢异常的报告，研究其父母的相同代谢谱很有意义。结果表明，父母在甲基化能力以及许多自闭症儿童中观察到的谷胱甘肽依赖性抗氧化/解毒能力方面存在类似的代谢缺陷。目前正在进行研究，以确定父母的异常谱是反映了这些通路中相关的基因多态性，还是仅仅反映了照顾自闭症儿童的慢性压力。
