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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.
Afiliación
  • López-Hernández LB; National Medical Centre "20 de Noviembre", Institute for Social Security of State Workers, Mexico City 03100, Mexico. lblhmedgen@gmail.com.
  • Gómez-Díaz B; Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico. lblhmedgen@gmail.com.
  • Luna-Angulo AB; National Institute of Rehabilitation, Mexico City 14389, Mexico.
  • Anaya-Segura M; Department of Molecular Biology, Panamerican University, Mexico City 03920, Mexico.
  • Bunyan DJ; Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico.
  • Zúñiga-Guzman C; University Center of Exact Sciences and Engineering, University of Guadalajara, Guadalajara 44430, Mexico.
  • Escobar-Cedillo RE; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK. Dave.Bunyan@salisbury.nhs.uk.
  • Roque-Ramírez B; Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico. anilorac_zg911@hotmail.com.
  • Ruano-Calderón LA; University Center of Exact Sciences and Engineering, University of Guadalajara, Guadalajara 44430, Mexico. anilorac_zg911@hotmail.com.
  • Rangel-Villalobos H; National Institute of Rehabilitation, Mexico City 14389, Mexico.
  • López-Hernández JA; National Medical Centre "20 de Noviembre", Institute for Social Security of State Workers, Mexico City 03100, Mexico. bladimir_roque@hotmail.com.
  • Estrada-Mena FJ; General Hospital of Durango, Durango, 34000, Mexico. laruanoc@hotmail.com.
  • García S; Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega, Universidad de Guadalajara, Ocotlán, 47810, México. hrangel13@hotmail.com.
  • Coral-Vázquez RM; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands. julyberries@hotmail.com.
Int J Mol Sci ; 16(3): 5334-46, 2015 Mar 09.
Article en En | MEDLINE | ID: mdl-25761239
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofina / Distrofia Muscular de Duchenne / Frecuencia de los Genes / Mutación Límite: Humans País/Región como asunto: Mexico Idioma: En Revista: Int J Mol Sci Año: 2015 Tipo del documento: Article País de afiliación: México Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofina / Distrofia Muscular de Duchenne / Frecuencia de los Genes / Mutación Límite: Humans País/Región como asunto: Mexico Idioma: En Revista: Int J Mol Sci Año: 2015 Tipo del documento: Article País de afiliación: México Pais de publicación: Suiza