[Cystic fibrosis].
Cystic fibrosis (CF), the most common fatal hereditary disorder in Caucasians, is caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. The protein product encoded by the CFTR gene is a cyclic-AMP-regulated Cl- channel that is dependent on protein kinase phosphorylation and requires binding of ATP for channel opening, but may have additional functions. Although the most common mutation of the CFTR gene (DeltaF508) is found in approximately 70% of CF chromosomes, more than 400 other mutations of the gene have been documented. Several new therapeutic approaches including gene therapy by transfer of the normal CFTR gene to airway epithelium and protein replacement by reconstituting a recombinant functional CFTR protein into the membrane lipid bilayer are being extensively pursued.
Yoshimura
K
K
Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, Japan.
Anzai
C
C
D018118:Chloride Channels; D000242:Cyclic AMP; D003550:Cystic Fibrosis; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000502:physiology; D015316:Genetic Therapy; D006801:Humans; D009154:Mutation
C505032:CFTR protein, human; D018118:Chloride Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D000242:Cyclic AMP