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连接蛋白半通道在促进面肩肱型肌营养不良症进展中未被探索的作用

The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.

作者信息

Díaz-Ubilla Macarena, Retamal Mauricio A

机构信息

Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.

Programa de Comunicación Celular en Cáncer, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.

出版信息

Int J Mol Sci. 2025 Jan 4;26(1):373. doi: 10.3390/ijms26010373.

Abstract

DUX4 is typically a repressed transcription factor, but its aberrant activation in Facioscapulohumeral Muscular Dystrophy (FSHD) leads to cell death by disrupting muscle homeostasis. This disruption affects crucial processes such as myogenesis, sarcolemma integrity, gene regulation, oxidative stress, immune response, and many other biological pathways. Notably, these disrupted processes have been associated, in other pathological contexts, with the presence of connexin (Cx) hemichannels-transmembrane structures that mediate communication between the intracellular and extracellular environments. Thus, hemichannels have been implicated in skeletal muscle atrophy, as observed in human biopsies and animal models of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Dysferlinopathies, suggesting a potentially shared mechanism of muscle atrophy that has not yet been explored in FSHD. Despite various therapeutic strategies proposed to manage FSHD, no treatment or cure is currently available. This review summarizes the current understanding of the mechanisms underlying FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function. Additionally, it explores the potential of targeting hemichannels as a therapeutic strategy to slow disease progression by preventing the spread of pathogenic factors between muscle cells.

摘要

DUX4通常是一种被抑制的转录因子,但它在面肩肱型肌营养不良症(FSHD)中的异常激活会通过破坏肌肉内环境稳态导致细胞死亡。这种破坏会影响诸如肌生成、肌膜完整性、基因调控、氧化应激、免疫反应以及许多其他生物途径等关键过程。值得注意的是,在其他病理情况下,这些被破坏的过程与连接蛋白(Cx)半通道——介导细胞内和细胞外环境之间通讯的跨膜结构的存在有关。因此,半通道与骨骼肌萎缩有关,如在杜兴氏肌营养不良症、贝克氏肌营养不良症和肌膜蛋白病的人体活检和动物模型中所观察到的,这表明在FSHD中尚未探索的一种潜在的肌肉萎缩共同机制。尽管提出了各种治疗FSHD的策略,但目前尚无治疗方法或治愈手段。本综述总结了目前对FSHD进展潜在机制的理解,重点关注激素、炎症、活性氧(ROS)和线粒体功能。此外,它还探讨了将半通道作为一种治疗策略的潜力,即通过防止致病因子在肌肉细胞之间传播来减缓疾病进展。

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