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Int. J. Mol. Sci. 2015, 16(3), 5334-5346;

Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies

National Medical Centre "20 de Noviembre", Institute for Social Security of State Workers, Mexico City 03100, Mexico
Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico
National Institute of Rehabilitation, Mexico City 14389, Mexico
Department of Molecular Biology, Panamerican University, Mexico City 03920, Mexico
University Center of Exact Sciences and Engineering, University of Guadalajara, Guadalajara 44430, Mexico
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK
General Hospital of Durango, Durango, 34000, Mexico
Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega, Universidad de Guadalajara, Ocotlán, 47810, México
Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands
Studies Section of Postgraduate and Research, School of Medicine, National Polytechnic Institute, Mexico City 11340, Mexico
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Academic Editor: Stephen A. Bustin
Received: 17 December 2014 / Revised: 17 February 2015 / Accepted: 27 February 2015 / Published: 9 March 2015
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
Full-Text   |   PDF [1469 KB, uploaded 11 March 2015]   |  


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. View Full-Text
Keywords: Ataluren; DMD gene; MLPA; exon skipping; Duchenne; therapies Ataluren; DMD gene; MLPA; exon skipping; Duchenne; therapies

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López-Hernández, L.B.; Gómez-Díaz, B.; Luna-Angulo, A.B.; Anaya-Segura, M.; Bunyan, D.J.; Zúñiga-Guzman, C.; Escobar-Cedillo, R.E.; Roque-Ramírez, B.; Ruano-Calderón, L.A.; Rangel-Villalobos, H.; López-Hernández, J.A.; Estrada-Mena, F.J.; García, S.; Coral-Vázquez, R.M. Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies. Int. J. Mol. Sci. 2015, 16, 5334-5346.

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