[Genetics and cellular biology of cystic fibrosis].
Cystic fibrosis (CF) is the most frequent lethal genetic disease in caucasians. It behaves as an autosomal recessive disease. The CF gene encodes a protein named CFTR (for "Cystic Fibrosis Transmembrane conductance Regulator") which exerts multiple functions. One of the most important function is the regulation of sodium and chlorine transport in epithelia. Defects in this control induce dehydration of airway surface liquid, which results in recurring bronchopulmonary infections, and increases in Na and Cl concentrations in sweat, which constitutes the rationale for the sweat test. CFTR also participates in the regulation of inflammation. Over one thousand mutations in the CFTR gene have been reported, the most frequent of which is the absence of the phenylalanine residue at amino acid position 508 (delta F508).
Chinet
Thierry
T
Laboratoire de biologie et pharmacologie des épithéliums respiratoires (UPRES EA 220) UFR Paris Ile-de-France Ouest, Université de Versailles-Saint-Quentin-en-Yvelines Hôpital Ambroise-Paré 92104 Boulogne. thierry.chinet@apr.ap-hop-paris.fr
Blouquit
Sabine
S
D001798:Blood Proteins / Q000235:genetics; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans; D008168:Lung / Q000503:physiopathology; D009154:Mutation; D013542:Sweat / Q000737:chemistry
D001798:Blood Proteins; C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator