Univ. Bordeaux, CNRS, EPHE, INCIA, UMR 5287, Bordeaux, France.
Univ. Bordeaux, INSERM, Neurocentre Magendie, U1215, Bordeaux, France.
Neuropsychopharmacology. 2024 Dec;49(13):2032-2041. doi: 10.1038/s41386-024-01956-6. Epub 2024 Sep 2.
Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder characterized by several behavioral abnormalities, including hyperactivity, anxiety, sensory hyper-responsiveness, and autistic-like symptoms such as social deficits. Despite considerable efforts, effective pharmacological treatments are still lacking, prompting the need for exploring the therapeutic value of existing drugs beyond their original approved use. One such repurposed drug is chlorzoxazone which is classified as a large-conductance calcium-dependent potassium (BKCa) channel opener. Reduced BKCa channel functionality has been reported in FXS patients, suggesting that molecules activating these channels could serve as promising treatments for this syndrome. Here, we sought to characterize the therapeutic potential of chlorzoxazone using the Fmr1-KO mouse model of FXS which recapitulates the main phenotypes of FXS, including BKCa channel alterations. Chlorzoxazone, administered either acutely or chronically, rescued hyperactivity and acoustic hyper-responsiveness as well as impaired social interactions exhibited by Fmr1-KO mice. Chlorzoxazone was more efficacious in alleviating these phenotypes than gaboxadol and metformin, two repurposed treatments for FXS that do not target BKCa channels. Systemic administration of chlorzoxazone modulated the neuronal activity-dependent gene c-fos in selected brain areas of Fmr1-KO mice, corrected aberrant hippocampal dendritic spines, and was able to rescue impaired BKCa currents recorded from hippocampal and cortical neurons of these mutants. Collectively, these findings provide further preclinical support for BKCa channels as a valuable therapeutic target for treating FXS and encourage the repurposing of chlorzoxazone for clinical applications in FXS and other related neurodevelopmental diseases.
脆性 X 综合征(FXS)是一种 X 连锁的神经发育障碍,其特征是多种行为异常,包括多动、焦虑、感觉超敏反应和类似自闭症的症状,如社交缺陷。尽管付出了相当大的努力,但仍然缺乏有效的药物治疗方法,因此需要探索现有药物的治疗价值,超出其最初批准的用途。一种被重新利用的药物是氯唑沙宗,它被归类为大电导钙依赖性钾(BKCa)通道开放剂。已经报道 FXS 患者的 BKCa 通道功能降低,这表明激活这些通道的分子可能是治疗这种综合征的有前途的方法。在这里,我们试图使用 FXS 的 Fmr1-KO 小鼠模型来表征氯唑沙宗的治疗潜力,该模型重现了 FXS 的主要表型,包括 BKCa 通道改变。急性或慢性给予氯唑沙宗可挽救 Fmr1-KO 小鼠的多动和听觉超敏反应以及受损的社交互动。氯唑沙宗在缓解这些表型方面比加巴喷丁和二甲双胍更有效,加巴喷丁和二甲双胍是两种用于 FXS 的重新利用治疗方法,它们不针对 BKCa 通道。氯唑沙宗的系统给药调节了 Fmr1-KO 小鼠特定脑区神经元活动依赖性基因 c-fos,纠正了异常的海马树突棘,并能够挽救这些突变体海马和皮质神经元中受损的 BKCa 电流。总之,这些发现为 BKCa 通道作为治疗 FXS 的有价值的治疗靶点提供了进一步的临床前支持,并鼓励氯唑沙宗重新用于 FXS 和其他相关神经发育疾病的临床应用。