Bae Han-Gyu, Wu Wan-Chen, Nip Kaila, Gould Elizabeth, Kim Jun Hee
Kresge Hearing Research Institute, Department of Otolaryngology Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA.
Department of Cellular and Integrative Physiology, University of Texas Health Science Center, San Antonio, TX, USA.
Nat Commun. 2025 Aug 2;16(1):7109. doi: 10.1038/s41467-025-62494-3.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by complex sensory processing deficits, which continue to elude comprehensive mechanistic understanding. A key unresolved question is how alterations in neural connectivity and communication translate into the behavioral manifestations seen in ASD. Here, we investigate how oligodendrocyte dysfunction alters myelin plasticity and neuronal activity, leading to auditory processing disorder associated with ASD. We focus on the SCN2A gene, an ASD-risk factor, to understand its role in myelination and neural processing within the auditory nervous system. Transcriptional profiling suggests alterations in the expression of myelin-associated genes in Scn2a conditional knockout mice, highlighting the cellular consequences engendered by Scn2a deletion in oligodendrocytes. The results reveal a nuanced interplay between oligodendrocytes and axons, where Scn2a deletion causes alterations in the intricate process of myelination. This disruption instigates changes in axonal properties, presynaptic excitability, and synaptic plasticity at the single cell level. Furthermore, oligodendrocyte-specific Scn2a deletion compromises the integrity of neural circuitry within auditory pathways, leading to auditory hypersensitivity. Our findings reveal a pathway linking myelin deficits to synaptic activity and sensory abnormalities in ASD.
自闭症谱系障碍(ASD)是一种神经发育障碍,其特征是复杂的感觉处理缺陷,目前仍缺乏全面的机制理解。一个关键的未解决问题是神经连接和通信的改变如何转化为ASD中所见的行为表现。在这里,我们研究少突胶质细胞功能障碍如何改变髓鞘可塑性和神经元活动,导致与ASD相关的听觉处理障碍。我们聚焦于SCN2A基因,这是一个ASD风险因素,以了解其在听觉神经系统髓鞘形成和神经处理中的作用。转录谱分析表明Scn2a条件性敲除小鼠中髓鞘相关基因的表达发生了改变,突出了少突胶质细胞中Scn2a缺失所产生的细胞后果。结果揭示了少突胶质细胞和轴突之间微妙的相互作用,其中Scn2a缺失导致髓鞘形成这一复杂过程发生改变。这种破坏在单细胞水平上引发轴突特性、突触前兴奋性和突触可塑性的变化。此外,少突胶质细胞特异性Scn2a缺失损害了听觉通路内神经回路的完整性,导致听觉过敏。我们的研究结果揭示了一条将髓鞘缺陷与ASD中的突触活动和感觉异常联系起来的途径。