| Literature DB >> 12847523 |
Hengjun Chao1, S Gary Mansfield, Robert C Bartel, Suja Hiriyanna, Lloyd G Mitchell, Mariano A Garcia-Blanco, Christopher E Walsh.
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.Entities:
Mesh：
Substances：
Year: 2003 PMID： 12847523 DOI： 10.1038/nm900
Source DB: PubMed Journal: Nat Med ISSN： 1078-8956 Impact factor: 53.440