Methods for altering mrna splicing and treating familial...

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 5/071 (2010.01) A61K 31/353 (2006.01) A61K 31/355 (2006.01) A61K 31/519 (2006.01) A61K 31/52 (2006.01) A61P 25/00 (2006.01) C12N 15/63 (2006.01) C12N 15/67 (2006.01) C12N 15/85 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2540681

This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.

L'invention concerne des procédés permettant de modifier l'épissage d'ARNm dans les cellules, et en particulier des procédés permettant d'augmenter le taux de type sauvage de formes d'ARNm à mauvais épissage et de protéines codées correspondantes dans les cellules qui possèdent un gène mutant codant soit i) l'ARNm à mauvais épissage correspondant à la protéine mutante soit ii) un composant dans la structure d'épissage responsable du traitement de l'ARNm à mauvais épissage. L'invention concerne également le traitement d'individus ayant des troubles associés à un ARNm à mauvais épissage, du type dysautonomie familiale ou neurofibromatose 1, par administration d'une cytokine du type kinétine.

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