Abstract
Cystic fibrosis is a monogenic, autosomal, recessive disease characterized by an alteration of chloride transport caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The loss of Phe residue in position 508 (ΔF508-CFTR) causes an incorrect folding of the protein causing its degradation and electrolyte imbalance. CF patients are extremely predisposed to the development of a chronic inflammatory process of the bronchopulmonary system. When the cells of a tissue are damaged, the immune cells are activated and trigger the production of free radicals, provoking an inflammatory process. In addition to routine therapies, today drugs called correctors are available for mutations such as ΔF508-CFTR as well as for others less frequent ones. These active molecules are supposed to facilitate the maturation of the mutant CFTR protein, allowing it to reach the apical membrane of the epithelial cell. Matrine induces ΔF508-CFTR release from the endoplasmic reticulum to cell cytosol and its localization on the cell membrane. We now have evidence that Matrine and Lumacaftor not only restore the transport of mutant CFTR protein, but probably also counteract the inflammatory process by improving the course of the disease.
Highlights
Cystic fibrosis (CF) is an autosomal recessive disease involving mucus and sweatproducing cells, that though it affects multiple organs, the lungs are the most severely compromised leading to death in 90% of patients [1]
The disease is due to mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is expressed in a large number of epithelial and blood cells [3]
From the images obtained by confocal microscopy (Figure 1A), it is possible to observe that in A549∆ the single treatment with Matrine (300 μM) or with Vx-809 (2 μM) induces a change in the localization of the CFTR protein from a diffuse localization in an area that was identified as endoplasmic reticulum (ER)-Golgi
Summary
Cystic fibrosis (CF) is an autosomal recessive disease involving mucus and sweatproducing cells, that though it affects multiple organs, the lungs are the most severely compromised leading to death in 90% of patients [1]. The disease is due to mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is expressed in a large number of epithelial and blood cells [3]. The most common genetic mutation is in Phe508∆ gene [4], caused by a deletion of three base pairs Phe508∆), with the consequent loss of a phenylalanine. It has been estimated that 68% of cases of CF patients have this deletion and search for other alleles is in progress [5]
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