Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model

Severity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.

Citation:
Martinovich KM, Kicic A, Stick SM, Johnsen RD, Fletcher S, Wilton SD. Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model. Front Pharmacol. 2022;13.

Keywords:
Cystic fibrosis transmembrane conductance; regulator; exon deletion; exon skipping therapy; mouse model; transgenic mouse

Abstract:
Severity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.