[From the laboratory to the clinic: CFTR and the therapeutic options for cystic fibrosis].
Cystic fibrosis is a common lethal heritable disorder, caused by a defect in a chloride channel protein, namely CFTR. After the identification of the gene and its product by positional cloning (on chromosome 7), CFTR has been characterized as a low conductance (8-10 pSiemens) linear chloride channel, which appears to regulate other apical transport proteins. Two therapeutic options are reviewed: gene transfection and drug therapy. So far, clinical studies have shown that gene transfection cannot effectively restore CFTR function. Simultaneously, several drugs including genistein, phenylimidazothiazoles and gentamicin have been found to activate mutant CFTR, thus, being suitable for single or combined (with gene transfection) treatment.
Mayol
J
J
Servicio de Cirugía I, Hospital Clínico San Carlos, Madrid. j.mayol@mad.servicom.es
Alvarez de Arcaya Vicente
A
A
Arbeo Escolar
A M
AM
Peña Soria
M J
MJ
Alvarez Fernández-Represa
J
J
D018118:Chloride Channels / Q000187:drug effects / Q000502:physiology; D003550:Cystic Fibrosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000187:drug effects / Q000235:genetics / Q000502:physiology*; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D009154:Mutation / Q000187:drug effects
C505032:CFTR protein, human; D018118:Chloride Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator