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Advances in genetic therapeutic strategies for Duchenne muscular dystrophy
NEW FINDINGS: What is the topic of this review? This review highlights recent progress in genetically based therapies targeting the primary defect of Duchenne muscular dystrophy. What advances does it highlight? Over the last two decades, considerable progress has been made in understanding the mech...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973818/ https://www.ncbi.nlm.nih.gov/pubmed/26140505 http://dx.doi.org/10.1113/EP085308 |
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author | Guiraud, Simon Chen, Huijia Burns, David T. Davies, Kay E. |
author_facet | Guiraud, Simon Chen, Huijia Burns, David T. Davies, Kay E. |
author_sort | Guiraud, Simon |
collection | PubMed |
description | NEW FINDINGS: What is the topic of this review? This review highlights recent progress in genetically based therapies targeting the primary defect of Duchenne muscular dystrophy. What advances does it highlight? Over the last two decades, considerable progress has been made in understanding the mechanisms underlying Duchenne muscular dystrophy, leading to the development of genetic therapies. These include manipulation of the expression of the gene or related genes, the splicing of the gene and its translation, and replacement of the gene using viral approaches. Duchenne muscular dystrophy is a lethal X‐linked disorder caused by mutations in the dystrophin gene. In the absence of the dystrophin protein, the link between the cytoskeleton and extracellular matrix is destroyed, and this severely compromises the strength, flexibility and stability of muscle fibres. The devastating consequence is progressive muscle wasting and premature death in Duchenne muscular dystrophy patients. There is currently no cure, and despite exhaustive palliative care, patients are restricted to a wheelchair by the age of 12 years and usually succumb to cardiac or respiratory complications in their late 20s. This review provides an update on the current genetically based therapies and clinical trials that target or compensate for the primary defect of this disease. These include dystrophin gene‐replacement strategies, genetic modification techniques to restore dystrophin expression, and modulation of the dystrophin homologue, utrophin, as a surrogate to re‐establish muscle function. |
format | Online Article Text |
id | pubmed-4973818 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-49738182016-08-17 Advances in genetic therapeutic strategies for Duchenne muscular dystrophy Guiraud, Simon Chen, Huijia Burns, David T. Davies, Kay E. Exp Physiol Review Articles NEW FINDINGS: What is the topic of this review? This review highlights recent progress in genetically based therapies targeting the primary defect of Duchenne muscular dystrophy. What advances does it highlight? Over the last two decades, considerable progress has been made in understanding the mechanisms underlying Duchenne muscular dystrophy, leading to the development of genetic therapies. These include manipulation of the expression of the gene or related genes, the splicing of the gene and its translation, and replacement of the gene using viral approaches. Duchenne muscular dystrophy is a lethal X‐linked disorder caused by mutations in the dystrophin gene. In the absence of the dystrophin protein, the link between the cytoskeleton and extracellular matrix is destroyed, and this severely compromises the strength, flexibility and stability of muscle fibres. The devastating consequence is progressive muscle wasting and premature death in Duchenne muscular dystrophy patients. There is currently no cure, and despite exhaustive palliative care, patients are restricted to a wheelchair by the age of 12 years and usually succumb to cardiac or respiratory complications in their late 20s. This review provides an update on the current genetically based therapies and clinical trials that target or compensate for the primary defect of this disease. These include dystrophin gene‐replacement strategies, genetic modification techniques to restore dystrophin expression, and modulation of the dystrophin homologue, utrophin, as a surrogate to re‐establish muscle function. John Wiley and Sons Inc. 2015-12-01 2015-08-04 /pmc/articles/PMC4973818/ /pubmed/26140505 http://dx.doi.org/10.1113/EP085308 Text en © 2015 The Authors. Experimental Physiology published by John Wiley & Sons Ltd on behalf of The Physiological Society This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Articles Guiraud, Simon Chen, Huijia Burns, David T. Davies, Kay E. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title | Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title_full | Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title_fullStr | Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title_full_unstemmed | Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title_short | Advances in genetic therapeutic strategies for Duchenne muscular dystrophy |
title_sort | advances in genetic therapeutic strategies for duchenne muscular dystrophy |
topic | Review Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973818/ https://www.ncbi.nlm.nih.gov/pubmed/26140505 http://dx.doi.org/10.1113/EP085308 |
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