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Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplications, splice site defects, and deep intronic mutations) that re...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995704/ https://www.ncbi.nlm.nih.gov/pubmed/35419381 http://dx.doi.org/10.3389/fmed.2022.859930 |
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author | Happi Mbakam, Cedric Lamothe, Gabriel Tremblay, Jacques P. |
author_facet | Happi Mbakam, Cedric Lamothe, Gabriel Tremblay, Jacques P. |
author_sort | Happi Mbakam, Cedric |
collection | PubMed |
description | Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplications, splice site defects, and deep intronic mutations) that result in a lack of functional dystrophin expression. Many therapeutic approaches have so far been attempted to induce dystrophin expression and improve the patient phenotype. In this manuscript, we describe the relevant updates for some therapeutic strategies for DMD aiming to restore dystrophin expression. We also present and analyze in vitro and in vivo ongoing experimental approaches to treat the disease. |
format | Online Article Text |
id | pubmed-8995704 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89957042022-04-12 Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy Happi Mbakam, Cedric Lamothe, Gabriel Tremblay, Jacques P. Front Med (Lausanne) Medicine Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplications, splice site defects, and deep intronic mutations) that result in a lack of functional dystrophin expression. Many therapeutic approaches have so far been attempted to induce dystrophin expression and improve the patient phenotype. In this manuscript, we describe the relevant updates for some therapeutic strategies for DMD aiming to restore dystrophin expression. We also present and analyze in vitro and in vivo ongoing experimental approaches to treat the disease. Frontiers Media S.A. 2022-03-28 /pmc/articles/PMC8995704/ /pubmed/35419381 http://dx.doi.org/10.3389/fmed.2022.859930 Text en Copyright © 2022 Happi Mbakam, Lamothe and Tremblay. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Happi Mbakam, Cedric Lamothe, Gabriel Tremblay, Jacques P. Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title | Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title_full | Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title_fullStr | Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title_full_unstemmed | Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title_short | Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy |
title_sort | therapeutic strategies for dystrophin replacement in duchenne muscular dystrophy |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995704/ https://www.ncbi.nlm.nih.gov/pubmed/35419381 http://dx.doi.org/10.3389/fmed.2022.859930 |
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