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Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the heart and diaphragm. Approximately 1/5000 boys and 1/50,000,000 girls suffer from DMD, and to date, the disease is incurable and...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233280/ https://www.ncbi.nlm.nih.gov/pubmed/33825942 http://dx.doi.org/10.1007/s00018-021-03821-x |
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author | Starosta, Alicja Konieczny, Patryk |
author_facet | Starosta, Alicja Konieczny, Patryk |
author_sort | Starosta, Alicja |
collection | PubMed |
description | Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the heart and diaphragm. Approximately 1/5000 boys and 1/50,000,000 girls suffer from DMD, and to date, the disease is incurable and leads to premature death. This phenotypic severity is due to mutations in the DMD gene, which result in the absence of functional dystrophin protein. Initially, dystrophin was thought to be a force transducer; however, it is now considered an essential component of the dystrophin-associated protein complex (DAPC), viewed as a multicomponent mechanical scaffold and a signal transduction hub. Modulating signal pathway activation or gene expression through epigenetic modifications has emerged at the forefront of therapeutic approaches as either an adjunct or stand-alone strategy. In this review, we propose a broader perspective by considering DMD to be a disease that affects myofibers and muscle stem (satellite) cells, as well as a disorder in which abrogated communication between different cell types occurs. We believe that by taking this systemic view, we can achieve safe and holistic treatments that can restore correct signal transmission and gene expression in diseased DMD tissues. |
format | Online Article Text |
id | pubmed-8233280 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-82332802021-07-09 Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy Starosta, Alicja Konieczny, Patryk Cell Mol Life Sci Review Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the heart and diaphragm. Approximately 1/5000 boys and 1/50,000,000 girls suffer from DMD, and to date, the disease is incurable and leads to premature death. This phenotypic severity is due to mutations in the DMD gene, which result in the absence of functional dystrophin protein. Initially, dystrophin was thought to be a force transducer; however, it is now considered an essential component of the dystrophin-associated protein complex (DAPC), viewed as a multicomponent mechanical scaffold and a signal transduction hub. Modulating signal pathway activation or gene expression through epigenetic modifications has emerged at the forefront of therapeutic approaches as either an adjunct or stand-alone strategy. In this review, we propose a broader perspective by considering DMD to be a disease that affects myofibers and muscle stem (satellite) cells, as well as a disorder in which abrogated communication between different cell types occurs. We believe that by taking this systemic view, we can achieve safe and holistic treatments that can restore correct signal transmission and gene expression in diseased DMD tissues. Springer International Publishing 2021-04-07 2021 /pmc/articles/PMC8233280/ /pubmed/33825942 http://dx.doi.org/10.1007/s00018-021-03821-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Review Starosta, Alicja Konieczny, Patryk Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title | Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title_full | Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title_fullStr | Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title_full_unstemmed | Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title_short | Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy |
title_sort | therapeutic aspects of cell signaling and communication in duchenne muscular dystrophy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233280/ https://www.ncbi.nlm.nih.gov/pubmed/33825942 http://dx.doi.org/10.1007/s00018-021-03821-x |
work_keys_str_mv | AT starostaalicja therapeuticaspectsofcellsignalingandcommunicationinduchennemusculardystrophy AT koniecznypatryk therapeuticaspectsofcellsignalingandcommunicationinduchennemusculardystrophy |