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. 2003 Aug;9(8):1015-9.
doi: 10.1038/nm900. Epub 2003 Jul 6.

Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing

Hengjun Chao  1 , S Gary Mansfield, Robert C Bartel, Suja Hiriyanna, Lloyd G Mitchell, Mariano A Garcia-Blanco, Christopher E Walsh
Affiliations

Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing

Hengjun Chao et al. Nat Med. 2003 Aug.

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.

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