Frye Richard E, James S Jill
Arkansas Children's Hospital Research Institute, Department of Pediatrics, University of Arkansas for Medical Sciences, Slot 512-41B, 13 Children's Way, Little Rock, AR 72202, USA.
Biomark Med. 2014;8(3):321-30. doi: 10.2217/bmm.13.158.
An imbalance in glutathione-dependent redox metabolism has been shown to be associated with autism spectrum disorder (ASD). Glutathione synthesis and intracellular redox balance are linked to folate and methylation metabolism, metabolic pathways that have also been shown to be abnormal in ASD. Together, these metabolic abnormalities define a distinct ASD endophenotype that is closely associated with genetic, epigenetic and mitochondrial abnormalities, as well as environmental factors related to ASD. Biomarkers that reflect these metabolic abnormalities will be discussed in the context of an ASD metabolic endophenotype that may lead to a better understanding of the pathophysiological mechanisms underlying core and associated ASD symptoms. Last, we discuss how these biomarkers have been used to guide the development of novel ASD treatments.
谷胱甘肽依赖性氧化还原代谢失衡已被证明与自闭症谱系障碍（ASD）有关。谷胱甘肽合成和细胞内氧化还原平衡与叶酸和甲基化代谢相关，而这些代谢途径在ASD中也已被证明是异常的。这些代谢异常共同定义了一种独特的ASD内表型，该内表型与遗传、表观遗传和线粒体异常以及与ASD相关的环境因素密切相关。反映这些代谢异常的生物标志物将在ASD代谢内表型的背景下进行讨论，这可能有助于更好地理解核心ASD症状和相关ASD症状背后的病理生理机制。最后，我们讨论了这些生物标志物如何被用于指导新型ASD治疗方法的开发。
