Institute for Microscopic Anatomy and Neurobiology, University Medical Center of the Johannes Gutenberg-University, Duesbergweg 6, 55128, Mainz, Germany.
Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg-University, Langenbeckstraße 1, 55131, Mainz, Germany.
J Mol Med (Berl). 2021 Feb;99(2):161-178. doi: 10.1007/s00109-020-02018-2. Epub 2020 Dec 18.
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.
自闭症谱系障碍（ASD）是一种神经发育障碍，主要表现为社交互动障碍，同时伴有重复行为。ASD 始于儿童时期，并贯穿整个生命周期。其临床表现的多样性使得早期诊断变得困难。突触基因的突变和线粒体功能的改变被认为是重要的潜在致病因素，但显然我们对 ASD 病理生理学的认识还远远不够。在突触处，线粒体具有多种功能，其作用显然不仅仅局限于作为能量提供者的经典作用。在这里，我们回顾了突触处线粒体的现有知识，并总结了 ASD 小鼠模型以及其他与 ASD 相关的神经发育障碍（如 DiGeorge 综合征、Rett 综合征、结节性硬化症和唐氏综合征）中发现的线粒体紊乱。
