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

Díaz, Macarena; Retamal, Mauricio A.

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

dc.contributor.author	Díaz, Macarena
dc.contributor.author	Retamal, Mauricio A.
dc.date.accessioned	2026-08-12T16:14:38Z
dc.date.available	2026-08-12T16:14:38Z
dc.date.issued	2025
dc.description.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.
dc.description.version	Versión Publicada
dc.identifier.citation	Díaz-Ubilla M, Retamal MA. The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression. Int J Mol Sci. 2025 Jan 4;26(1):373. doi: 10.3390/ijms26010373
dc.identifier.doi	https://doi.org/ 10.3390/ijms26010373
dc.identifier.uri	https://hdl.handle.net/11447/11002
dc.language.iso	en
dc.subject	connexin
dc.subject	hemichannels
dc.subject	muscular dystrophy
dc.subject	therapy
dc.title	The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression
dc.type	Article
dcterms.accessRights	Acceso Abierto
dcterms.source	International journal of molecular sciences
dspace.entity.type	Publication
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relation.isAuthorOfPublication.latestForDiscovery	01e4a6fa-e55f-47c5-a1b6-383d5fc6f474