Qu Wenxuan, Yan Ge, Du Yajuan, Zhou Xinyang, Huang Chutian, Li Bei, Zhou Junmei, Li Qian
Department of Central Laboratory, School of Medicine, Shanghai Children's Hospital, Shanghai Jiaotong University, 355 Luding Road, Shanghai, 200062, Putuo District, China.
Mol Neurobiol. 2025 May;62(5):5629-5639. doi: 10.1007/s12035-024-04637-z. Epub 2024 Nov 26.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by multiple dysfunctions in behavior, the nervous system, and the immune system. Increasing evidence suggests that mitochondrial DNA (mtDNA) plays a crucial role in the pathology of ASD. In clinical practice, altered mtDNA levels have been observed in various tissues of individuals with ASD. Mutation or oxidation of mtDNA is also closely related to the immune response associated with the pathology of autism. With mtDNA identified as a causal factor, much interest has focused on how its production affects neurodevelopment and neurophysiology. Here, we review how mtDNA leads to dysfunction of cellular mitochondria and immune response. We also illustrate the relationship between mtDNA alterations and the pathology of autism. Finally, we discuss the existing evidence on cell-free mtDNA associated with ASD and look forward to its application in clinical diagnosis and treatment.
自闭症谱系障碍(ASD)是一种神经发育障碍,其特征是行为、神经系统和免疫系统存在多种功能障碍。越来越多的证据表明,线粒体DNA(mtDNA)在ASD的病理过程中起着关键作用。在临床实践中,已观察到ASD个体的各种组织中线粒体DNA水平发生改变。线粒体DNA的突变或氧化也与自闭症病理相关的免疫反应密切相关。由于线粒体DNA被确定为一个致病因素,人们的许多兴趣都集中在其产生如何影响神经发育和神经生理学上。在这里,我们综述了线粒体DNA如何导致细胞线粒体功能障碍和免疫反应。我们还阐述了线粒体DNA改变与自闭症病理之间的关系。最后,我们讨论了与ASD相关的游离线粒体DNA的现有证据,并展望其在临床诊断和治疗中的应用。