Altered regulation of a proteinase mediated primary secretion processing system as the basic defect in cystic fibrosis.
Depsite the high incidence of cystic fibrosis there is no clear cut direction to research into the basic defect responsible for this disorder. This is, at least in part, due to the exceptional amount of irreproducibility surrounding the disease. The defective ion reabsorption in CF sweat glands may be a prototype of a generalized failure to correctly process exocrine gland primary secretions. Such a physiological defect could account for many of the clinical symptoms of CF. It is hypothesised that one or more secreted proteinase(s) may mediate the events of secretion processing. A mutation in the structural gene for such a proteinase or a regulating anti-proteinase or some enzyme carrying out a functionally important post translational modification of the proteinase would then account for the disease.
D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000201:enzymology*; D006801:Humans; D010447:Peptide Hydrolases / Q000172:deficiency / Q000235:genetics*; D013545:Sweat Glands / Q000378:metabolism
D010447:Peptide Hydrolases