Cystic fibrosis transmembrane regulator CFTR

Cystic fibrosis, a disease of the Caucasian population, is associated with defective CL regulation and is essentially a disorder of epithehal cells (113,114). The defect arises at several levels in the CL ion transporter, ie, the cystic fibrosis transmembrane regulation (CFTR), and is associated with defective CL transport and defective processing, whereby the protein is not correctiy incorporated into the cell membrane. The most common mutation, affecting approximately 60% of patients, is termed F 608 and designates the loss of phenylalanine at this position. This mutation appears to be at least 50,000 years old, which suggests that its survival may have had evolutionary significance (115). 

O In CF, the cystic fibrosis transmembrane regulator (CFTR) chloride channel is dysfunctional and usually results in decreased chloride secretion and increased sodium absorption, leading to altered viscosity of fluid excreted by the exocrine glands and mucosal obstruction. 

Cystic fibrosis is a life-threatening genetic disease caused by a dysfunctional cystic fibrosis transmembrane regulator, CFTR protein, which modulates salt and water transport into and out of cells. This ion-channel defect leads to poorly hydrated, thick, mucous secretions in the airways and severely impaired mucociliary func-... 

Prenatal diagnosis and carrier detection of cystic fibrosis Cystic fibrosis is an autosomal recessive genetic disease resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR)... 

Mucoviscidosis or cystic fibrosis (CF) is indeed one of the most common autosomal recessive diseases. It is characterized by the production of a viscous secretion in the excretory glands. Accordingly, pancreatic cystic fibrosis can be observed in the pancreatic area and cylindrical bronchiectases in the pulmonary area. The inspissation of bile and mucus leads to obstruction of the bile canaliculi and subsequently to cholestasis. The gene product is characterized as cystic fibrosis transmembrane regulator (CFTR). (252) The gene defect, which is located on chromosome 7, causes a disorder of the intracellular transport of chloride ions (probably also of chloride ion secretion) and thus triggers the occurrence of CF. The incidence of mucoviscidosis is about 1 2,000-4,500. 

Cystic fibrosis is characterized by an imbalance in airway chloride ion concentrations due to the absence of cystic fibrosis transmembrane regulator (CFTR) receptor. Three approaches have been taken to the use of aerosols to treat this... 

Disorders caused by misfolded mutant proteins that fail to pass the quality control system of the ER (e.g., mutations of the cystic fibrosis transmembrane regulator protein (CFTR) causing cystic fibrosis). The mutant proteins are retrotranslocated into the cytosol and finally subjected to proteolysis. In some... 

Genetic testing for cystic fibrosis using PCR. CFTR = cystic fibrosis transmembrane regulator. 

The hypothesis that Pgp regulates volume-activated chloride channels was developed by the observation that Pgp was highly related to the cystic fibrosis transmembrane regulator protein (CFTR). CFTR belongs, like Pgp, to the ABC superfamily of transporters and is a plasma membrane chloride channel that is dysfunctional in cystic fibrosis (50). However, the role of Pgp in volume-regulatory processes has been controversial, and a current hypothesis is that Pgp does not have channel activity itself, but it may regulate swelling-induced anion channels (57). 

CFTR cystic fibrosis transmembrane regulator FEF25%-75% forced expiratory volume from 25 to 75% of vital capacity... 

Wagner JA Messner AH, Moran ML, et al. Safety and biological efficacy of an adeno-associated virus vector-cystic fibrosis transmembrane regulator (AAV-CFTR) in the cystic fibrosis maxillary sinus. Laryngoscope 1999 109 266-274. 

The gene defective in cystic fibrosis codes for CFTR (cystic fibrosis transmembrane condnctance regulator), a membrane protein that pumps CP out of cells. If this CP pump is defective, CP ions remain in cells, which then take up water from the surrounding mucus by osmosis. The mucus thickens and accumulates in various organs, including the lungs, where its presence favors infections such as pneumonia. Left untreated, children with cystic fibrosis seldom survive past the age of 5 years. 

Cystic fibrosis Cystic fibrosis transmembrane conductance regulator (CFTR) Benzo(c)quinolizinium derivatives, VRT-325... 

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