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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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
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
Descripción
Sumario: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.