19 cf_ja - Cystic Fibrosis and CFTR John P. Aris 1 October...

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Cystic Fibrosis and CFTR John P. Aris 1 October 2007
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CF and CFTR CF is a heterogeneous recessive genetic disorder Caused by mutations in gene that encodes CFTR CFTR - Cystic Fibrosis Transmembrane Regulator CFTR regulates movement of chloride ions (Cl - ) across cell membranes (similar to a Cl - channel) CFTR is present in epithelial cells of lung, sweat glands, pancreas, and other tissues
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CFTR Function Most common mutation in CFTR is deletion of phenyalanine-508, which causes of defective folding of CFTR in the rER Defective folding prevents vesicular transport of CFTR to the Golgi apparatus F508∆
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Lung Pathophysiology Normal - airway surface volume (ASL) is regulated Mucus - viscosity permits movement of mucus by cilia
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19 cf_ja - Cystic Fibrosis and CFTR John P. Aris 1 October...

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