Department of Pediatrics, The Children's Learning Institute, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Pediatr Res. 2011 May;69(5 Pt 2):41R-7R. doi: 10.1203/PDR.0b013e318212f16b.
Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder. Over the past decade, evidence has emerged that some children with ASD suffer from undiagnosed comorbid medical conditions. One of the medical disorders that has been consistently associated with ASD is mitochondrial dysfunction. Individuals with mitochondrial disorders without concomitant ASD manifest dysfunction in multiple high-energy organ systems, such as the central nervous, muscular, and gastrointestinal (GI) systems. Interestingly, these are the identical organ systems affected in a significant number of children with ASD. This finding increases the possibility that mitochondrial dysfunction may be one of the keys that explains the many diverse symptoms observed in some children with ASD. This article will review the importance of mitochondria in human health and disease, the evidence for mitochondrial dysfunction in ASD, the potential role of mitochondrial dysfunction in the comorbid medical conditions associated with ASD, and how mitochondrial dysfunction can bridge the gap for understanding how these seemingly disparate medical conditions are related. We also review the limitations of this evidence and other possible explanations for these findings. This new understanding of ASD should provide researchers a pathway for understanding the etiopathogenesis of ASD and clinicians the potential to develop medical therapies.
自闭症谱系障碍(ASD)是一种严重的神经发育障碍。在过去的十年中,有证据表明,一些患有 ASD 的儿童患有未确诊的合并症。与 ASD 一直相关的一种医学疾病是线粒体功能障碍。没有并发 ASD 的线粒体疾病患者表现出多个高能器官系统(如中枢神经系统、肌肉和胃肠道(GI)系统)的功能障碍。有趣的是,这些正是许多患有 ASD 的儿童受影响的相同器官系统。这一发现增加了线粒体功能障碍可能是解释一些 ASD 儿童观察到的许多不同症状的关键之一的可能性。本文将回顾线粒体在人类健康和疾病中的重要性、ASD 中线粒体功能障碍的证据、线粒体功能障碍在与 ASD 相关的合并症中的潜在作用,以及线粒体功能障碍如何弥合理解这些看似不同的医学病症之间关系的差距。我们还回顾了这些证据的局限性以及对这些发现的其他可能解释。对 ASD 的这种新理解应该为研究人员提供一条理解 ASD 的病因发病机制的途径,并为临床医生提供开发医学治疗的潜力。