1.
An Med Interna
; 17(2): 92-8, 2000 Feb.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-10829466
RESUMO
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.