Cargando…

Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments

Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused by the altered expression of the transcription factor double homeobox 4 (DUX4), which is involved in several significantly alt...

Descripción completa

Detalles Bibliográficos
Autores principales: Duranti, Elisa, Villa, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253551/
https://www.ncbi.nlm.nih.gov/pubmed/37298453
http://dx.doi.org/10.3390/ijms24119503
_version_ 1785056433048387584
author Duranti, Elisa
Villa, Chiara
author_facet Duranti, Elisa
Villa, Chiara
author_sort Duranti, Elisa
collection PubMed
description Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused by the altered expression of the transcription factor double homeobox 4 (DUX4), which is involved in several significantly altered pathways required for myogenesis and muscle regeneration. While DUX4 is normally silenced in the majority of somatic tissues in healthy individuals, its epigenetic de-repression has been linked to FSHD, resulting in DUX4 aberrant expression and cytotoxicity in skeletal muscle cells. Understanding how DUX4 is regulated and functions could provide useful information not only to further understand FSHD pathogenesis, but also to develop therapeutic approaches for this disorder. Therefore, this review discusses the role of DUX4 in FSHD by examining the possible molecular mechanisms underlying the disease as well as novel pharmacological strategies targeting DUX4 aberrant expression.
format Online
Article
Text
id pubmed-10253551
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-102535512023-06-10 Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments Duranti, Elisa Villa, Chiara Int J Mol Sci Review Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused by the altered expression of the transcription factor double homeobox 4 (DUX4), which is involved in several significantly altered pathways required for myogenesis and muscle regeneration. While DUX4 is normally silenced in the majority of somatic tissues in healthy individuals, its epigenetic de-repression has been linked to FSHD, resulting in DUX4 aberrant expression and cytotoxicity in skeletal muscle cells. Understanding how DUX4 is regulated and functions could provide useful information not only to further understand FSHD pathogenesis, but also to develop therapeutic approaches for this disorder. Therefore, this review discusses the role of DUX4 in FSHD by examining the possible molecular mechanisms underlying the disease as well as novel pharmacological strategies targeting DUX4 aberrant expression. MDPI 2023-05-30 /pmc/articles/PMC10253551/ /pubmed/37298453 http://dx.doi.org/10.3390/ijms24119503 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Duranti, Elisa
Villa, Chiara
Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title_full Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title_fullStr Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title_full_unstemmed Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title_short Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
title_sort influence of dux4 expression in facioscapulohumeral muscular dystrophy and possible treatments
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253551/
https://www.ncbi.nlm.nih.gov/pubmed/37298453
http://dx.doi.org/10.3390/ijms24119503
work_keys_str_mv AT durantielisa influenceofdux4expressioninfacioscapulohumeralmusculardystrophyandpossibletreatments
AT villachiara influenceofdux4expressioninfacioscapulohumeralmusculardystrophyandpossibletreatments