title: [New therapeutic developments in cystic fibrosis].
abstract: Since the discovery of chloride secretion by the Cystic Fibrosis Transport regulator CFTR in 1983, and CFTR gene in 1989, knowledge about CFTR synthesis, maturation, intracellular transfer and function has dramatically expanded. These discoveries have led to the distribution of CF mutations into 6 classes with different pathophysiological mechanisms. In this article we will explore the state of art on CFTR synthesis and its chloride secretion function. We will then explore the consequences of the 6 classes of mutations on CFTR protein function and we will describe the new therapeutic developments aiming at correcting these defects.
authors.affiliation: CHU de Bordeaux Pellegrin, CRCM pédiatrique, Centre d'Investigation Clinique (CIC 1401), Place Amélie Raba Léon, F-33076 Bordeaux, France. Electronic address: stephanie.bui@chu-bordeaux.fr.
authors.forename: S
authors.initials: S
authors.lastname: Bui
authors.affiliation: CHU de Bordeaux Pellegrin, CRCM adulte, Hôpital Haut l'Evêque, Avenue Magellan, F-33076 Bordeaux, France.
authors.forename: J
authors.initials: J
authors.lastname: Macey
authors.affiliation: Université de Bordeaux, Centre de Recherche Cardio-Thoracique de Bordeaux, U1045, CIC 1401, Place Amélie Raba Léon, F-33000 Bordeaux, France.
authors.forename: M
authors.initials: M
authors.lastname: Fayon
authors.affiliation: CRCM Pédiatrique, Hôpital Mère-enfant, 7 quai Moncousu, 44093 Nantes, France.
authors.forename: T
authors.initials: T
authors.lastname: Bihouée
authors.affiliation: CRCM Adultes Hôpital Cochin, 27 rue du Faubourg Saint-Jacques, 75679 Paris, France.
authors.forename: P-R
authors.initials: PR
authors.lastname: Burgel
authors.affiliation: Association Vaincre la Mucoviscidose, 181 Rue de Tolbiac, 75013 Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Colomb
authors.affiliation: CRCM Pédiatrique, Hôpital Armand Trousseau, 26 Av du Dr Arnold Netter, 75571 Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Corvol
authors.affiliation: CRCM Adultes, Centre Hospitalier Lyon Sud, 165 Chemin de Grand Revoyet, 69495 Pierre-Bénite, France.
authors.forename: I
authors.initials: I
authors.lastname: Durieu
authors.affiliation: CRCM Adultes Hôpital Cochin, 27 rue du Faubourg Saint-Jacques, 75679 Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.affiliation: CRCM Pédiatrique, Hôpital Charles Nicolle, 1 rue de Germont, 76031 Rouen, France.
authors.forename: C
authors.initials: C
authors.lastname: Marguet
authors.affiliation: CRCM Pédiatrique, Hôpital des enfants, 330 Av de Grande Bretagne, 31059 Toulouse, France.
authors.forename: E
authors.initials: E
authors.lastname: Mas
authors.affiliation: CRCM Pédiatrique Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Munck
authors.affiliation: CRCM Adulte, Hôpital Larrey 24 Chemin de Pourvouville, 31059 Toulouse, France.
authors.forename: M
authors.initials: M
authors.lastname: Murris-Espin
authors.affiliation: CRCM Pédiatrique, Hôpital Debrousse, 29 rue Sœurs Bouvier, 69322 Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Reix
authors.affiliation: CRCM Pédiatrique, Hôpital Necker enfants malades, 149 rue de Sèvres, 75743 Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Sermet-Gaudelus
mesh_terms: D002712:Chlorides / Q000378:metabolism; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000502:physiology; D004252:DNA Mutational Analysis; D006801:Humans
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator