LYCOS RETRIEVER 
Cystic Fibrosis: Cystic Fibrosis Transmembrane
built 178 days ago
Cystic fibrosis is exclusively heritable as both parents must carry the recessive genes for a child to acquire the disease. At the genetic level, cystic fibrosis is most often the result of an in-frame deletion of three base pairs in the DNA. Cystic fibrosis results from the production of an abnormal form of a protein called cystic fibrosis transmembrane conductance regulator(CFTR). CFTR functions in transporting chloride ionsacross epithelial cellsfound in the lungand intestinaltract. In CF patients, CFTR does not function properly, causing accumulation of ions inside epithelial cells. Since water follows ions by osmosis, this results in water depletion and viscous mucuson the surface of alveoli.
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Trafficking, activation, and kinetics of delta F508-cystic fibrosis transmembrane conductance regulator (CFTR) and CFTR were compared in stably transduced C127I mouse mammary epithelial cells. Western blots detected a small amount of fully glycosylated delta F508-CFTR Efflux of 125I was stimulated by forskolin with the same mean effective concentration (EC50; approximately 0.5 microM) for CFTR and delta F508- CFTR cells, but the maximum response was reduced more than fivefold and its latency increased approximately threefold in delta F508-CFTR cells. In delta F508-CFTR cells, 3-isobutyl-1-methylxanthine (IBMX; EC50 = 1.45 microM) and 8-cyclopentyl-1,3-dipropylxanthine (CPX; EC50 = 58 microM) increased the peak forskolin-stimulated efflux rate approximately 2.5-fold and decreased the time to peak. A sevenfold increase in intracellular adenosine 3',5'-cyclic monophosphate (cAMP) levels accompanied potentiation of forskolin-induced 125I efflux by IBMX but not by CPX. Elevation of intracellular cAMP increased linear voltage-independent whole cell currents 30-fold in CFTR and 4-fold in delta F508-CFTR cells; the response rate in delta F508-CFTR cells was much slower. Single-channel currents were detected in 57 of 68 cell- attached patches from forskolin-prestimulated CFTR cells vs. 6 of 35 patches in delta F508-CFTR cells.
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The agreement calls for AMRI to screen its natural products-based libraries to find compounds that improve the function of the defective protein in CF, known as the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). AMRI will ... conduct an integrated drug discovery program -- including chemistry and in vitro biology -- on promising compounds that may emerge from the screening program. Should any compounds identified under the agreement progress into preclinical or clinical testing, AMRI has the option to provide chemical development and GMP manufacturing services to CFFT on those compounds.
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Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened and sticky. The abnormal mucus can affect many organs and body systems including:
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[O]f the abnormality in the function of the cystic fibrosis transmembrane regulator (CFTR), the secretions from the pancreas become thick and lead to an obstruction of the ducts. This obstruction then causes a decrease in the secretion of digestive enzymes from the pancreas. A child with CF has difficulty absorbing fats, some proteins, and fat-soluble vitamins A, D, E, and K.
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Cystic Fibrosis Transmembrane