Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

ABSTRACT: In the past few years, research in targeted mutation therapies has experienced significant advances, especially in the field of rare diseases. In particular, the efficacy of antisense therapy for suppression of normal, pathogenic, or cryptic splice sites has been demonstrated in cellular and animal models and has already reached the clinical trials phase for Duchenne muscular dystrophy. In different inherited metabolic diseases, splice switching oligonucleotides (SSOs) have been used with success in patients' cells to force pseudoexon skipping or to block cryptic splice sites, in both cases recovering normal transcript and protein and correcting the enzyme deficiency. However, future in vivo studies require individual approaches for delivery depending on the gene defect involved, given the

SUBMITTER: Perez B 

PROVIDER: S-EPMC3922136 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature