Frontiers in Pharmacology · 2013 · 388 citations · 66 references
Life SciencesCell BiologyMolecular BiologyAutophagyMolecular Cell BiologyMolecular PhysiologyAutophagy DysfunctionAutophagy DysregulationAutophagy In DiseaseAutophagy ModulationAutophagy RegulationCystic FibrosisCftr Gene MutationsCftr Protein FunctionCystic Fibrosis GeneticsIntracellular RetentionPlasma Membrane StabilizationProteostasisProteostasis RegulationProteostasis Response
Cystic fibrosis (CF) patients harboring the most common deletion mutation of the CF transmembrane conductance regulator (CFTR), F508del, are poor responders to potentiators of CFTR channel activity which can be used to treat a small subset of CF patients who genetically carry plasma membrane (PM)-resident CFTR mutants. The misfolded F508del-CFTR protein is unstable in the PM even if rescued by pharmacological agents that prevent its intracellular retention and degradation. CF is a conformational disease in which defective CFTR induces an impressive derangement of general proteostasis resulting from disabled autophagy. In this review, we discuss how rescuing Beclin 1 (BECN1), a major player of autophagosome formation, either by means of direct gene transfer or indirectly by administration of proteostasis regulators, could stabilize F508del-CFTR at the PM. We focus on the relationship between the improvement of peripheral proteostasis and CFTR PM stability in F508del-CFTR homozygous bronchial epithelia or mouse lungs. Moreover, this article reviews recent pre-clinical evidence indicating that targeting the intracellular environment surrounding the misfolded mutant CFTR instead of protein itself could constitute an attractive therapeutic option to sensitize patients carrying the F508del-CFTR mutation to the beneficial action of CFTR potentiators on lung inflammation.
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