Cystic fibrosis CFTR gene

Robertson NH, Weston SL, Kelly SJ, Duxbury NJ, Pearce SR, Elsmore P, Webb MBT, Newton CR, Little S. Development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene. Eur Respir J 1998 12 477-482. 

Cystic fibrosis (CFTR gene) Inheritance autosomal recessive Location chromosome 7 (7q31) Mutation deletion of 3 bp at codonSOS accounts for 70% of mutations Huntington disease ... 

The cystic fibrosis (cf) gene was first identified in 1989. It codes for CFTR, a 170 kDa protein that serves as a chloride channel in epithelial cells. Inheritance of a mutant cftr gene from both parents results in the cystic fibrosis phenotype. While various organs are affected, the most severely affected are the respiratory epithelial cells. These cells have, unsurprisingly, become the... 

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 (MIM 219700) Mutations in the gene encoding the CFTR protein, a Cl" transporter... 

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR), a chloride (CF) channel characterised by chloride permeability and secretion, and also by the regulation of other epithelial ion channels (Eidelman et al, 2001). Mutations in the CFTR gene lead to an impaired or absent Cl conductance in the epithelial apical membrane, which leads to defective Cl secretion and absorption across the epithelium. Genistein (Illek et al, 1995 Weinreich et al, 1997) and other flavonoids (Illek and Fisher, 1998) have been shown, in different animal and tissue models, to activate wild-type CFTR and CFTR mutants by (Eidelman et al, 2001 Roomans, 2001 Suaud et al, 2002) ... 

First clinical human gene therapy trials with polyplexes were performed using cancer vaccines based on autologous patient tumor cells. These were modified ex vivo with interleukin-2 pDNA. To obtain high level transfection rates of patient s primary tumor cells, Tf-PLL/pDNA polyplexes linked with inactivated endosomolytic adenovirus particles were applied [221]. Polymer-based in vivo human gene transfer studies were performed with PEGylated PLL polyplexes, delivering CFTR pDNA to the airway epithelium of cystic fibrosis patients [222],... 

Caplen NJ, Alton EW, Middleton PG, Dorin JR, Stevenson BJ, Gao X, Durham SR, Jeffery PK, Hodson ME, Coutelle C (1995) Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nat Med 1 39-46... 

Ziady AG, Kelley TJ, Milliken E, Ferkol T, Davis PB (2002) Functional evidence of CFTR gene transfer in nasal epithelium of cystic fibrosis mice in vivo following luminal application of DNA complexes targeted to the serpin-enzyme complex receptor. Mol Ther 5 413-419... 

The gene product is termed cystic fibrosis transmembrane conductance regulator (CFTR), and it codes for a chloride ion channel. It may also carry out additional (as yet undetermined) functions. 

Kammouni, W., B. Moreau, F. Becq, A. Saleh, A. Pavirani, C. Figarella, and M. D. Merten. 1999. A cystic fibrosis tracheal gland cell line, CF-KM4. Correction by adenovirus-mediated CFTR gene transfer. Am J Respir Cell Mol Biol 20(4) 684—91. 

CF is caused by the absence of a protein called cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required for the transport of chloride ions across cell membranes. On the molecular level, there is a mutation in the gene that encodes for CFTR. As a result, CFTR cannot be processed properly by the cell and is unable to reach the exocrine glands to assume its transport function. 

Alton EW, Stern M, Farley R, et al. Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis a double-blind placebo-con-trolled trial. Lancet 1999 353(9157) 947-954. 

The gene responsible for CF codes for the cystic fibrosis transmembrane conductance regulator (CFTR), which is a chloride channel expressed on the surface of epithelial cells that line the affected organs. 

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