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Discovery of the cystic fibrosis gene: the interface of basic science and clinical medicine.

Because the Red Journal is devoted to communication and education relating to cell and molecular biology of the lung, we would be remiss in not reviewing the recent publications that identify the gene for cystic fibrosis (CF) and further our understanding of the basic defect in CF (1-3). The CF story has been the subject of considerable publicity, in part because it is the most frequent fatal autosomal recessive disorder in Caucasians. Identification of the gene is the most recent but certainly not the only instance where investigation of a clinical pulmonary problem has resulted in major contributions to our understanding of basic biology. Of great importance to this journal is the illustration of the enormous potential that molecular biology has to impact on clinical medicine. CF was first recognized as a clinical entity in the 1930s. In the 1950s, abnormal chloride secretion in CF was recognized and established as a diagnostic test and the general approach to therapy was established (see reference 4 for review and references). The focus has been on the gene and the basic defect in the 1980s. Studies in the early 1980s identified a defect in airway epithelial chloride secretion. Subsequent work narrowed the search to some abnormality in chloride channels on the apical surface of the epithelium. It became clear that there was a defect in secretion of Clin response to beta-adrenergic agonists and that this defect was not due to altered receptor binding, to the subsequent activation of adenyl cyclase, or to an altered phosphokinase A (PKA), a kinase that phosphorylates the chloride channel. Patchclamping studies of isolated cell membranes showed that the Cl" channel is normal in CF. However, there appeared to be some sort of an abnormal interaction of PKA with the apical chloride channel. Together with an energy source, ATP, PKA opened the channel and allowed Clflux to occur in normal but not in CF cells. Recent studies have shown that another kinase, phosphokinase C (PKC), activated by other receptors, also induces chloride flux in normal airway cells but fails to do so in CF cells. There may be other transport abnormalities in CF (e.g., sodium flux is excessive in cAMP-