Identification of therapeutic small molecule compound for cystic fibrosis by targeting pseudo exon-inclusion

Background: Cystic fibrosis (CF) is an autosomal recessive rare genetic disease with approximately 70,000 patients in the world. The pathogenesis of CF is attributable to ～2,000 of known mutation within the CFTR gene, which interfere with the processing or integrity of the CFTR protein. One of the deep intronic mutations, IVS22+12191C>T, that causes CF by creating pseudo exon within CFTR intron 22, is the most common splicing-type mutation found in ～2% of CF patients. The objective of this study is to provide novel therapeutic compounds for CF by targeting pseudo exon created by IVS22+12191C>T.