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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...

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Autores principales: Happi Mbakam, Cedric, Lamothe, Gabriel, Tremblay, Jacques P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
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.
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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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