Los oligonucleótidos antisentido son la primera terapia génica (en realidad terapia RNA antisentido , ya que no modifican el código genético) disponible en el mercado para el tratamiento de enfermedades neurogenéticas. Se basan en la técnica del salto del exón (Duchenne) o de la inclusión del exón (AME). Próximamente estará disponible también tratamiento para la distrofia miotónica de Steinert.
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1.
Daguenet E, Dujardin G, Valcárcel J. The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches. EMBO reports [Internet]. 2015 Dec [cited 2022 Nov 3];16(12):1640–55. Available from:
https://www.embopress.org/doi/full/10.15252/embr.201541116
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