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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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 |
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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 |
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