Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders.
Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders.
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DOI：
10.1203/pdr.0b013e318212f16b
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发表时间：
2011-05
影响因子：
3.6
通讯作者：
Rossignol DA
中科院分区：
文献类型：
--
作者：
Frye RE;Rossignol DA
自闭症谱系障碍（ASD）是一种毁灭性的神经发育障碍。在过去的十年中，有证据表明，一些患有ASD的儿童患有未诊断的合并症。一直与ASD相关的医学疾病之一是线粒体功能障碍。患有线粒体疾病而没有伴随ASD的个体在多个高能器官系统（例如中枢神经、肌肉和胃肠道系统）中表现出功能障碍。有趣的是，这些器官系统在大量ASD儿童中受到影响。这一发现提出了一种可能性，即线粒体功能障碍可能是解释在一些ASD儿童中观察到的许多不同症状的关键之一。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相关的共病医疗条件中的潜在作用，以及线粒体功能障碍如何弥合差距，以了解这些看似不同的医疗条件是如何相关的。我们还审查了这些证据的局限性和其他可能的解释这些发现。这种对ASD的新认识应该为研究人员了解ASD的发病机制和临床医生开发药物治疗的潜力提供一条途径。
Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder. Over the last decade, evidence has emerged that some children with ASD suffer from undiagnosed co-morbid 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 systems. Interestingly, these are the identical organ systems affected in a significant number of children with ASD. This finding raises the possibility that mitochondrial dysfunction may be one of the keys that explains the many diverse symptoms observed in some children with ASD. This manuscript 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 co-morbid 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 limitation 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.