University of Lausanne, Department of Fundamental Neuroscience, Lausanne, Switzerland.
University of Lausanne, Department of Fundamental Neuroscience, Lausanne, Switzerland; University of Rome Tor Vergata, Department of Biomedicine and Prevention, Rome, Italy.
Curr Opin Neurobiol. 2017 Aug;45:178-187. doi: 10.1016/j.conb.2017.05.018. Epub 2017 Jun 16.
Autism Spectrum Disorder (ASD) is a prototypic pervasive developmental disorder characterized by social interaction, and communication deficits, repetitive, stereotypic patterns of behavior, and impairments in language and development. Clinical studies have identified mitochondrial disturbances at the levels of DNA, activity, complexes, oxidative stress, and metabolites in blood and urine of ASD patients. However, these observations from postmortem brains or peripheral tissues do not provide a direct link between autism and mitochondria. The synaptic abnormality of autistic patients has not been investigated yet. Here we review the findings of clinical studies investigating mitochondrial involvement in ASD patients, focusing particularly on the brain and the limitations and future directions needed in order to fully understand the role of mitochondria in ASD pathology.
自闭症谱系障碍（ASD）是一种典型的广泛性发育障碍，其特征是社交互动、沟通障碍、重复刻板的行为模式以及语言和发育障碍。临床研究已经在 ASD 患者的血液和尿液中发现了 DNA、活性、复合物、氧化应激和代谢物水平的线粒体紊乱。然而，这些来自死后大脑或外周组织的观察结果并不能提供自闭症与线粒体之间的直接联系。自闭症患者的突触异常尚未得到研究。在这里，我们综述了临床研究中关于 ASD 患者中线粒体参与的研究结果，特别关注大脑以及为了充分理解线粒体在 ASD 病理中的作用所需的局限性和未来方向。
