Foxg1基因突变损害听觉皮层反应,降低声音耐受性。

IF 2.9 2区 医学 Q2 NEUROSCIENCES
Fei Xu, Guangdi Chen, Shin Jeon, Lynne Ling, Senthilvelan Manohar, Dalian Ding, Benjamin D Auerbach, Jae Lee, Soo-Kyung Lee, Wei Sun
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引用次数: 0

摘要

FOXG1综合征(FS)是一种罕见的破坏性神经发育障碍,受FOXG1基因突变的影响,有报道称患有FS的儿童声音耐受性降低。采用G216S小鼠模型,研究Foxg1基因单错义突变对听觉功能和行为的影响。G216S小鼠显示间隙诱导的预脉冲抑制显著减少,表明时间加工不良,但没有听力损失。G216小鼠在大声声音下的奔跑和冻结行为也有所增加,表明它们有厌恶声音的行为。对G216小鼠听觉皮层的电生理评估显示,声音刺激的振幅略有降低,刺激后反应略有增加。采用电流源密度进行层函数分析,发现G216S小鼠的层特异性响应降低。免疫细胞化学发现Foxg1基因突变影响皮质层分化,减少皮质神经元,与生理结果一致。我们的研究表明Foxg1突变会损害皮质发育。该结果与其他自闭症谱系障碍(ASD)模型一致,提示G216S小鼠模型可能代表ASD的听觉亢进模型。我们的研究结果提供了直接证据,证明Foxg1基因的单核苷酸突变可以影响皮质层发育和听觉加工,并降低声音耐受性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Foxg1 gene mutation impairs auditory cortex response and reduces sound tolerance.

FOXG1 syndrome (FS) is a rare and devastating neurodevelopmental disorder affected by FOXG1 gene mutations and reduced sound tolerance has been reported in children with FS. Effects of single missense mutation of Foxg1 gene on auditory function and behavior were studied using the G216S mouse model. G216S mice showed significantly reduced gap-induced prepulse inhibition, suggesting poor temporal processing without hearing loss. Increased running and freezing behaviors under loud sounds were also found in G216 mice, suggesting aversive sound behaviors. Electrophysiological assessment of the auditory cortex of G216 mice revealed a slightly reduced amplitude and enlarged poststimulus responses to the sound stimulus. The layer function analysis using current source density revealed reduced layer-specific response in the G216S mice. Immunocytochemistry found Foxg1 gene mutation affects cortical layer differentiations and reduced cortical neurons, which are consistent with the physiological results. Our study suggests that the Foxg1 mutation impaired cortical development. The results are consistent with other models of autism spectrum disorders (ASDs), suggesting that the G216S mouse model may represent a hyperacusis model of ASD. Our results provide direct evidence that a single-nucleotide mutation of the Foxg1 gene can affect cortical layer development and auditory processing and reduce sound tolerance.

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来源期刊
Cerebral cortex
Cerebral cortex 医学-神经科学
CiteScore
6.30
自引率
8.10%
发文量
510
审稿时长
2 months
期刊介绍: Cerebral Cortex publishes papers on the development, organization, plasticity, and function of the cerebral cortex, including the hippocampus. Studies with clear relevance to the cerebral cortex, such as the thalamocortical relationship or cortico-subcortical interactions, are also included. The journal is multidisciplinary and covers the large variety of modern neurobiological and neuropsychological techniques, including anatomy, biochemistry, molecular neurobiology, electrophysiology, behavior, artificial intelligence, and theoretical modeling. In addition to research articles, special features such as brief reviews, book reviews, and commentaries are included.
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