Cystic fibrosis: righting the wrong protein

Article Abstract:

In 1989, researchers first identified the gene responsible for the defect in cystic fibrosis, one of the most common of all fatal genetic diseases. Since that time, great progress has been made which may lead not only to a better understanding of the function of the gene, but also to actual genetic therapy for individuals with cystic fibrosis. The cystic fibrosis gene codes for a protein which is called cystic fibrosis transmembrane regulator, or CFTR. The gene has been cloned, and CFTR may now be mass produced for research purposes. The genetically engineered product has a molecular weight between 130 and 140 kiloDaltons; scientists are not sure why it is not the 170 kiloDaltons which would be predicted on the basis of gene sequence. One of the most consistent physiological defects identified in some cells from patients with cystic fibrosis is impermeability to chloride ions. Researchers have now shown that they can correct this abnormality in tissue culture by introducing a normal gene into the cystic fibrosis cells in the process called transfection. Some researchers do not believe, however, that CFTR is actually the ion channel responsible for chloride permeability. On the basis of analogies between CFTR and other proteins, they suspect the elusive protein may be an ATPase transport protein, that is, a protein which uses ATP energy to pump something into or out of the cell. So far, this "something" has not yet been identified, nor is it certain that CFTR actually makes use of ATP energy. With the genetic tools now available, however, it would seem that the role of CFTR in the regulation of chloride permeability will soon become clearer. In addition, the treatment of the disease by the direct introduction of normal genes into affected lung cells may advance from dream to reality more rapidly than anyone had imagined. (Consumer Summary produced by Reliance Medical Information, Inc.)

Care and treatment, Research, Gene therapy, editorial

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In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator

Article Abstract:

Experiments were performed to learn more about the expression of the gene that causes cystic fibrosis (CF), a disorder of exocrine gland secretion characterized by pancreatic insufficiency, chronic lung disease, intestinal disorders, and infertility. The aberrant gene in CF is the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that helps regulate the flow of ions across cell membranes. Abnormalities of chloride transport are marked in CF. These studies have identified the sites of CFTR messenger RNA in rat tissues. CFTR expression in pancreas, salivary glands, lung, uterus, testis, and intestine is described. Based on the regulation of CFTR expression that was observed, the authors conclude it is likely that CFTR functions to transport chloride ions in the pancreas, salivary glands, and intestine. It may work as a regulated chloride channel in these organs. In the lung or testis, other roles are possible. (Consumer Summary produced by Reliance Medical Information, Inc.)

Reports

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Chloride channels revisited

Article Abstract:

The cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel, contains a genetic defect that initiates the pathophysiology of cystic fibrosis (CF). CF, a common and severe hereditary disease of caucasians, chiefly affects the epithelial tissues of the lungs, pancreas and intestine. Marie Egan and colleagues have found that the CFTR affects the functioning of another chloride channel, the outwardly rectifying chloride channel. The research indicates that using gene or protein therapy to remove mutant CFTR may be more effective for treating CF than drugs.

Health aspects, Development and progression, Chloride channels

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