Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies

International Journal of Molecular Sciences
Luz B López-HernándezRamón M Coral-Vázquez

Abstract

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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Citations

Jun 20, 2015·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Monica Alejandra Anaya-SeguraLuz Berenice López-Hernandez
Aug 17, 2016·International Journal of Molecular Sciences·Mónica Alejandra Anaya-SeguraLuz Berenice López-Hernández
Mar 1, 2019·Molecular Medicine Reports·Jingzi ZhongDan Lan
Oct 26, 2016·The Journal of Physiology·J PingelJ B Nielsen
Jun 22, 2021·Frontiers in Pharmacology·Leonela LuceFlorencia Giliberto
Jul 31, 2021·Molecular Genetics & Genomic Medicine·María Luisa Guevara-FujitaRicardo Fujita

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Methods Mentioned

BETA
antisense oligonucleotides
PCR

Software Mentioned

ENLACE
Centurion XVI
STATGRAPHICS
Genemarker

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