EPS3.05 Proximity Profiling of CFTR with Gating Mutations

Abstract

Objectives: The prevalence of many Class III CFTR mutations are present in at least one allele in approximately 10% of the CF population. Type III mutations do not impact the surface quantity of CFTR at the cell surface but do cause defects in CFTR channel gating. The introduction of VX-770 has resulted in treated patients having a lower prevalence of CF-related complications and better-preserved lung function. VX-770 is currently the only CFTR potentiator approved for use in CF patients. Despite the many benefits this therapy has brought to the CF population, there are still patients who harbour mutations that lead to severe defects in CFTR channel conductance. Using proximity-dependent biotin identification (BioID), we can unveil novel interactions to determine how to better treat rarer forms of this disease.