Norman A O, Farooq N, Sahni A, Tapia K, Breiner D, Razak K A, Ethell I M
Division of Biomedical Sciences, School of Medicine, University of California, Riverside, CA, USA.
Graduate Neuroscience Program, University of California Riverside, Riverside, CA, USA; Department of Psychology, University of California Riverside, Riverside, CA, USA.
Exp Neurol. 2025 May;387:115184. doi: 10.1016/j.expneurol.2025.115184. Epub 2025 Feb 15.
Fragile X syndrome (FXS) is a leading genetic form of autism and intellectual disability that is associated with a loss-of-function mutation in the Fragile X messenger ribonucleoprotein 1 (Fmr1) gene. The Fmr1 knockout (KO) mouse model displays many aspects of FXS-related phenotypes and is used to study FXS pathophysiology. Sensory manipulations, such as sound exposure, are considered as a non-invasive approach to alleviate FXS phenotypes. However, it is unclear what specific sound attributes may have beneficial effects. In this study, we examined the effects of sound repetition rate on auditory cortex development and FXS-associated behaviors in a mouse model of FXS. KO and wild-type (WT) male littermates were exposed to 14 kHz pure tone trains with 1 Hz or 5 Hz repetition rates during postnatal day (P)9-P21 developmental period. We analyzed the effects of developmental sound exposure on PV cell development, cortical activity and exploratory behaviors in sound-exposed WT and KO mice. We found that parvalbumin (PV) cell density was lower in the auditory cortex (AuC) of KO compared to WT mice raised in sound-attenuated environment, but was increased following the exposure to both 1 Hz and 5 Hz sound trains. However, PV protein levels were upregulated only in AuC of 5 Hz rate exposed KO mice. Interestingly, analysis of baseline cortical activity using electroencephalography (EEG) recordings showed that sound attenuation or exposure to sound trains with 5 Hz, but not 1 Hz, repetition rates corrected enhanced resting state gamma power in AuC of KO mice to WT levels. In addition, sound attenuation and exposure to 5 Hz showed some beneficial effects on the synchronization to frequency-modulated chirp in the frontal cortex (FC) of both WT and KO mice. Analysis of event-related potentials (ERP) in response to broadband sound showed increased ongoing responses and decreased habituation to noise stimuli in the AuC and FC of naive KO mice. While sound-attenuation and exposure to 5 Hz showed no significant effects on the power of onset and ongoing responses, exposure to 1 Hz further enhanced ongoing responses and decreased habituation to sound in both WT and KO mice. Finally, developmental exposure to sound trains with 5 Hz, but not 1 Hz, repetition rates normalized exploratory behaviors and improved social novelty preference but not hyperactivity in KO mice. Summarizing, our results show that developmental exposure of mice to sound trains with 5 Hz, but not 1 Hz, repetition rate had beneficial effects on PV cell development, overall cortical activity and behaviors in KO mice. While sound attenuation alone normalized some EEG phenotypes, it did not improve PV development or behaviors. These findings may have a significant impact on developing new approaches to alleviate FXS phenotypes and open possibilities for a combination of sound exposure with drug treatment which may offer highly novel therapeutic approaches.
脆性X综合征(FXS)是自闭症和智力残疾的主要遗传形式,与脆性X信使核糖核蛋白1(Fmr1)基因的功能丧失突变有关。Fmr1基因敲除(KO)小鼠模型表现出许多与FXS相关的表型特征,可用于研究FXS的病理生理学。感觉操纵,如声音暴露,被认为是一种减轻FXS表型的非侵入性方法。然而,尚不清楚哪些特定的声音属性可能具有有益效果。在本研究中,我们在FXS小鼠模型中研究了声音重复率对听觉皮层发育和FXS相关行为的影响。在出生后第(P)9至P21发育期间,将KO和野生型(WT)雄性同窝小鼠暴露于重复率为1Hz或5Hz的14kHz纯音序列。我们分析了发育性声音暴露对声音暴露的WT和KO小鼠中PV细胞发育、皮层活动和探索行为的影响。我们发现,与在声音衰减环境中饲养的WT小鼠相比,KO小鼠听觉皮层(AuC)中的小白蛋白(PV)细胞密度较低,但在暴露于1Hz和5Hz声音序列后增加。然而,PV蛋白水平仅在暴露于5Hz重复率声音的KO小鼠的AuC中上调。有趣的是,使用脑电图(EEG)记录对基线皮层活动进行分析表明,声音衰减或暴露于重复率为5Hz而非1Hz的声音序列可将KO小鼠AuC中增强的静息态γ功率校正至WT水平。此外,声音衰减和暴露于5Hz对WT和KO小鼠额叶皮层(FC)中与调频啁啾的同步性均显示出一些有益影响。对宽带声音响应的事件相关电位(ERP)分析表明,未处理的KO小鼠的AuC和FC中持续反应增加,对噪声刺激的习惯化减少。虽然声音衰减和暴露于5Hz对起始和持续反应的功率没有显著影响,但暴露于1Hz进一步增强了WT和KO小鼠的持续反应,并降低了对声音的习惯化。最后,发育性暴露于重复率为5Hz而非1Hz的声音序列可使KO小鼠的探索行为正常化,并改善社交新奇偏好,但对多动没有影响。总之,我们的结果表明,小鼠在发育过程中暴露于重复率为5Hz而非1Hz的声音序列对KO小鼠的PV细胞发育、整体皮层活动和行为具有有益影响。虽然单独的声音衰减可使一些EEG表型正常化,但并未改善PV发育或行为。这些发现可能对开发减轻FXS表型的新方法产生重大影响,并为声音暴露与药物治疗相结合开辟可能性,这可能提供高度新颖的治疗方法。