Search results
CF carriers have one mutated copy of CFTR. The non-mutated copy allows them to live without CF. 1,2. Most carriers do not have symptoms of CF. However, some say they have mild symptoms. New research shows CF carriers have a higher risk for CF-related issues.
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.
Cystic fibrosis occurs when the cystic fibrosis transmembrane conductance regulator (CFTR) protein is either not made correctly, or not made at all. By understanding how the protein is made, scientists have been able to develop treatments that target the protein and restore its function.
Trikafta® is a prescription drug therapy approved by Health Canada for patients 2 years of age or older with cystic fibrosis who have at least one F508del gene variant in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Clinical trials for CFTR modulators have reported improvements in lung function and weight, and reduced pulmonary exacerbations requiring antibiotics. As CFTR modulators are systemic medications, they impact CFTR function in the sweat glands as measured by the concentration of chloride in sweat.
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.
People also ask
Can CFTR mutations cause cystic fibrosis?
What causes cystic fibrosis transmembrane conductance regulator (CFTR)?
What happens if CFTR is defective?
What happens if a CFTR gene is mutated?
Cystic fibrosis (CF) is the most common autosomal recessive disorder among Caucasians of Northern European descent, but can be found in all ethnic groups with varying frequency. CF is characterized by production of thick mucous that clogs respiratory airways.
