Author: ["Hengjun Chao","S Gary Mansfield","Robert C Bartel","Suja Hiriyanna","Lloyd G Mitchell","Mariano A Garcia-Blanco","Christopher E Walsh"]
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Abstract
Conventional gene therapy of hemophilia A relies on the transfer of factor VIII (FVIII; encoded by the F8 gene) cDNA. We carried out spliceosome-mediated RNA trans-splicing (SMaRT) to repair mutant FVIII mRNA. A pre-trans-splicing molecule (PTM) corrected endogenous FVIII mRNA in F8 knockout mice with the hemophilia A phenotype, producing sufficient functional FVIII to correct the hemophilia A phenotype. This is the first description of phenotypic correction of a genetic defect by RNA repair in a knockout animal model. Our results indicate the feasibility of using SMaRT to repair RNA for the treatment of genetic diseases.Cite this article
Chao, H., Mansfield, S., Bartel, R. et al. Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. Nat Med 9, 1015–1019 (2003). https://doi.org/10.1038/nm900 