A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

Abstract The study has developed a model splicing construct assay system based on misregulation, one of the major molecular features associated with myotonic dystrophy. double reporters for intron 2 in chloride channel (CLCN1). CLCN1 transgene was used to transfect wild type and DM fibroblast cell lines clones generated showed that it enabled quantification efficiency construct. Validation fibroblasts containing performed by differentiating into myoblasts which exhibited switch consistent dystrophy (DM) condition. myoblast derived from cell-based gene-splicing subsequently applied therapeutic screening small throughput screens 113 compounds identified Protein Kinase C inhibitors- hypericin Ro-31-8220 as potential agents. is good application because its facilitated effect putative drug correction misregulated splicing.