TY - JOUR
T1 - Comparison of mutation profiles in the duchenne muscular dystrophy gene among populations
T2 - Implications for potential molecular therapies
AU - López-Hernández, Luz Berenice
AU - Gómez-Díaz, Benjamín
AU - Luna-Angulo, Alexandra Berenice
AU - Anaya-Segura, Mónica
AU - Bunyan, David John
AU - Zúñiga-Guzman, Carolina
AU - Escobar-Cedillo, Rosa Elena
AU - Roque-Ramírez, Bladimir
AU - Ruano-Calderón, Luis Angel
AU - Rangel-Villalobos, Héctor
AU - López-Hernández, Julia Angélica
AU - Estrada-Mena, Francisco Javier
AU - García, Silvia
AU - Coral-Vázquez, Ramón Mauricio
N1 - Publisher Copyright:
© 2015 by the authors; licensee MDPI, Basel, Switzerland.
PY - 2015/3/9
Y1 - 2015/3/9
N2 - 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.
AB - 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.
KW - Ataluren
KW - DMD gene
KW - Duchenne
KW - Exon skipping
KW - MLPA
KW - Therapies
UR - http://www.scopus.com/inward/record.url?scp=84925852856&partnerID=8YFLogxK
U2 - 10.3390/ijms16035334
DO - 10.3390/ijms16035334
M3 - Artículo
C2 - 25761239
SN - 1661-6596
VL - 16
SP - 5334
EP - 5346
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
IS - 3
ER -