Yao Tong-Tong, Chen Lei, Du Yang, Jiang Zhong-Yong, Cheng Yong
Center On Translational Neuroscience, Institute of National Security, Minzu University of China, 27th South Zhongguancun Avenue, Beijing, 100081, China.
School of Ethnology and Sociology, Minzu University of China, Beijing, China.
Mol Neurobiol. 2025 Apr;62(4):5039-5056. doi: 10.1007/s12035-024-04582-x. Epub 2024 Nov 6.
The pathogenesis of autism spectrum disorder (ASD) is complex and is mainly influenced by genetic and environmental factors. Some research has indicated that environmental aspects may interplay with genetic aspects to enhance the risk, and microRNAs (miRNAs) are probably factors in explaining this link between heredity and the environment. MiRNAs are single-stranded noncoding RNAs that can regulate gene expression at the posttranscriptional level. Some research has indicated that miRNAs are closely linked to neurological diseases. Many aberrantly expressed miRNAs have been observed in autism, and these dysregulated miRNAs are expected to be potential biomarkers and provide new strategies for the treatment of this disease. This article reviews the research progress of miRNAs in autism, including their biosynthesis and function. It is found that some miRNAs show aberrant expression patterns in brain tissue and peripheral blood of autistic patients, which may serve as biomarkers of the disease. In addition, the article explores the novel role of exosomes as carriers of miRNAs with the ability to cross the blood-brain barrier and unique expression profiles, offering new possibilities for diagnostic and therapeutic interventions in ASD. The potential of miRNAs in exosomes as diagnostic markers for ASD is specifically highlighted, as well as the prospect of using engineered exosome-encapsulated miRNAs for targeted therapies.
自闭症谱系障碍（ASD）的发病机制复杂，主要受遗传和环境因素影响。一些研究表明，环境因素可能与遗传因素相互作用，增加患病风险，而微小RNA（miRNA）可能是解释遗传与环境之间这种联系的因素。miRNA是单链非编码RNA，可在转录后水平调节基因表达。一些研究表明，miRNA与神经疾病密切相关。在自闭症中已观察到许多异常表达的miRNA，这些失调的miRNA有望成为潜在的生物标志物，并为该疾病的治疗提供新策略。本文综述了miRNA在自闭症中的研究进展，包括其生物合成和功能。研究发现，一些miRNA在自闭症患者的脑组织和外周血中呈现异常表达模式，这可能作为该疾病的生物标志物。此外，本文探讨了外泌体作为miRNA载体的新作用，其能够穿越血脑屏障并具有独特的表达谱，为ASD的诊断和治疗干预提供了新的可能性。特别强调了外泌体中的miRNA作为ASD诊断标志物的潜力，以及使用工程化外泌体包裹的miRNA进行靶向治疗的前景。
