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The cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7. Mutations in this gene lead to CF. Since the discovery of the CFTR gene in ...
Oct 22, 2018 · Biallelic mutations of the cystic fibrosis (CF) transmembrane regulator ( CFTR) gene resulting in reduced or absent protein function cause CF. 1 The observed clinical syndrome of CF centers on airway disease characterized by inflammation, chronic infections, inspissation of tenacious secretions, bronchiectasis, and eventually premature death.
- Theodore G. Liou
- 10.1016/j.chest.2018.10.006
- 2019
- Chest. 2019 Mar; 155(3): 605-616.
The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. The CFTR protein is a particular type of protein called an ion channel. In the lung, the CFTR ion channel moves chloride ions from inside the cell to outside the cell.
It is highly expressed on the apical aspect of the pancreatic duct, making the pancreas particularly sensitive to CFTR mutations.[5, 6] CFTR-mediated chloride and bicarbonate secretion is integral to the pancreas’ ability to produce the alkaline pancreatic juice required for proper activation of enzymes for digestion and absorption of nutrients.[7, 8] The pancreatic disease resulting from ...
CF carriers are also more likely to have health problems that affect more than one organ system. 2 The more common a CF condition is, the more common it is in CF carriers. For example, some people with CF may have diarrhea, but lung infections are more common. Therefore, the risk of lung infections in CF carriers is higher than for diarrhea. 2.
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body. In people with CF, mutations in the CFTR gene can disrupt the normal production or ...
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Apr 2, 2018 · Introduction. Cystic fibrosis (CF) is an autosomal recessive hereditary disease that afflicts more than 85,000 people worldwide (De Boeck and Amaral, 2016).The culprit of this illness, the cftr gene (Riordan et al., 1989), encodes a PKA-activated but ATP-gated anion channel in the epithelial cells lining the airway, the gastrointestinal tract, the biliary duct, the sweat ducts, the pancreas ...
