La Mucoviscidose: Correction Par Sur-Expression de Nhe-Rf1
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Après une description de la mucoviscidose, cet ouvrage présente les résultats de deux études scientifiques. La première s'intéresse à l'impact d'une protéine partenaire de CFTR, NHE-RF1, sur la protéine mutée la plus fréquente dans la mucoviscidose: DeltaF508. Cette étude démontre que la sur-expression de NHE-RF1 corrige le défaut d'adressage de DeltaF508 et restaure une activité partielle. La seconde étude compare l'expression des récepteurs beta-adrénergiques (b-AR) et de NHE-RF1 dans les poumons de patients sains et mucoviscidosiques. En effet, les b1 et b2-AR sont présents dans les poumons où ils régulent diverses fonctions biologiques. Mais dans la mucoviscidose, la réponse beta-adrénergique globale est altérée. Ces travaux démontrent: 1) l'expression de b3-AR dans les poumons humains et 2) une modification d'expression des b-AR et de NHE-RF1 dans la mucoviscidose (sur-expression des b1 et b3-AR, sous-expression des b2-AR et NHE-RF1). L'implication physiopathologique de ce remodelage dans la mucoviscidose reste à définir. Enfin, la sous-expression de NHE-RF1 devra ètre prise en compte pour les possibilités de restauration pharmacologique des mutations chez les patients.
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