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Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies
Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness. Some of the molecular therapies, such as exon skipping, stop codon read-through and internal ribosom...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394478/ https://www.ncbi.nlm.nih.gov/pubmed/25761239 http://dx.doi.org/10.3390/ijms16035334 |
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author | López-Hernández, Luz Berenice Gómez-Díaz, Benjamín Luna-Angulo, Alexandra Berenice Anaya-Segura, Mónica Bunyan, David John Zúñiga-Guzman, Carolina Escobar-Cedillo, Rosa Elena Roque-Ramírez, Bladimir Ruano-Calderón, Luis Angel Rangel-Villalobos, Héctor López-Hernández, Julia Angélica Estrada-Mena, Francisco Javier García, Silvia Coral-Vázquez, Ramón Mauricio |
author_facet | López-Hernández, Luz Berenice Gómez-Díaz, Benjamín Luna-Angulo, Alexandra Berenice Anaya-Segura, Mónica Bunyan, David John Zúñiga-Guzman, Carolina Escobar-Cedillo, Rosa Elena Roque-Ramírez, Bladimir Ruano-Calderón, Luis Angel Rangel-Villalobos, Héctor López-Hernández, Julia Angélica Estrada-Mena, Francisco Javier García, Silvia Coral-Vázquez, Ramón Mauricio |
author_sort | López-Hernández, Luz Berenice |
collection | PubMed |
description | Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness. Some of the molecular therapies, such as exon skipping, stop codon read-through and internal ribosome entry site-mediated translation rely on the type and location of mutations. Hence, their potential applicability worldwide depends on mutation frequencies within populations. In view of this, we compared the mutation profiles of the populations represented in the DMD Leiden Open-source Variation Database with original data from Mexican patients (n = 162) with clinical diagnosis of the disease. Our data confirm that applicability of exon 51 is high in most populations, but also show that differences in theoretical applicability of exon skipping may exist among populations; Mexico has the highest frequency of potential candidates for the skipping of exons 44 and 46, which is different from other populations (p < 0.001). To our knowledge, this is the first comprehensive comparison of theoretical applicability of exon skipping targets among specific populations. |
format | Online Article Text |
id | pubmed-4394478 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-43944782015-05-21 Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies López-Hernández, Luz Berenice Gómez-Díaz, Benjamín Luna-Angulo, Alexandra Berenice Anaya-Segura, Mónica Bunyan, David John Zúñiga-Guzman, Carolina Escobar-Cedillo, Rosa Elena Roque-Ramírez, Bladimir Ruano-Calderón, Luis Angel Rangel-Villalobos, Héctor López-Hernández, Julia Angélica Estrada-Mena, Francisco Javier García, Silvia Coral-Vázquez, Ramón Mauricio Int J Mol Sci Article Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness. Some of the molecular therapies, such as exon skipping, stop codon read-through and internal ribosome entry site-mediated translation rely on the type and location of mutations. Hence, their potential applicability worldwide depends on mutation frequencies within populations. In view of this, we compared the mutation profiles of the populations represented in the DMD Leiden Open-source Variation Database with original data from Mexican patients (n = 162) with clinical diagnosis of the disease. Our data confirm that applicability of exon 51 is high in most populations, but also show that differences in theoretical applicability of exon skipping may exist among populations; Mexico has the highest frequency of potential candidates for the skipping of exons 44 and 46, which is different from other populations (p < 0.001). To our knowledge, this is the first comprehensive comparison of theoretical applicability of exon skipping targets among specific populations. MDPI 2015-03-09 /pmc/articles/PMC4394478/ /pubmed/25761239 http://dx.doi.org/10.3390/ijms16035334 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article López-Hernández, Luz Berenice Gómez-Díaz, Benjamín Luna-Angulo, Alexandra Berenice Anaya-Segura, Mónica Bunyan, David John Zúñiga-Guzman, Carolina Escobar-Cedillo, Rosa Elena Roque-Ramírez, Bladimir Ruano-Calderón, Luis Angel Rangel-Villalobos, Héctor López-Hernández, Julia Angélica Estrada-Mena, Francisco Javier García, Silvia Coral-Vázquez, Ramón Mauricio Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title | Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title_full | Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title_fullStr | Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title_full_unstemmed | Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title_short | Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies |
title_sort | comparison of mutation profiles in the duchenne muscular dystrophy gene among populations: implications for potential molecular therapies |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394478/ https://www.ncbi.nlm.nih.gov/pubmed/25761239 http://dx.doi.org/10.3390/ijms16035334 |
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