[Physiopathology of cystic fibrosis].
Cystic Fibrosis (CF) is the most common lethal genetic autosomic disease in Caucasians. The disease expresses itself in airway and other epithelial cells as a defective chloride ion absorption and secretion. At least, an abnormal cAMP-dependent regulation of an apically located chloride channel has been proposed as the underlying molecular defect. The gene responsible for CF has been identified and predicted to encode a membrane protein termed cystic fibrosis transmembrane conductance regulator (CFTR). The functional role of the predicted protein remains unclear, although strong evidence suggest that it is directly or indirectly involved in regulation of the apical chloride permeability in epithelial cells. This review discusses the fundamental issues currently being investigated in CF.
Wolff
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Departamento de Biología, Facultad de Ciencias, Universidad de Chile.
Stutzin
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A
D003994:Bucladesine / Q000378:metabolism*; D002463:Cell Membrane Permeability; D018118:Chloride Channels; D002712:Chlorides / Q000493:pharmacokinetics*; D003550:Cystic Fibrosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004563:Electrochemistry; D015316:Genetic Therapy; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D011493:Protein Kinase C / Q000378:metabolism; D011494:Protein Kinases / Q000378:metabolism; D014162:Transfection
C505032:CFTR protein, human; D018118:Chloride Channels; D002712:Chlorides; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D003994:Bucladesine; D011494:Protein Kinases; D011493:Protein Kinase C
Fisiopatología de la fibrosis quística.