What is F508 cystic fibrosis?
Abstract. The most common mutation in the gene associated with cystic fibrosis (CF) causes deletion of phenylalanine at residue 508 (delta F508) of the gene product called CFTR. This mutation results in the synthesis of a variant CFTR protein that is defective in its ability to traffic to the plasma membrane.
What is the R334W mutation?
Abstract. Introdution: R334W is a poorly described mutation responsible for less severe forms of Cystic Fibrosis,compared to ΔF508. In small cohorts,R334W patients’ age at diagnosis was reported as higher and pancreatic insufficiency as less extent, but data on the impact of this mutation is lacking.
What is Nonclassic cystic fibrosis?
Over the last few years, it has become apparent that the diagnosis of cystic fibrosis (CF) applies to an expanded phenotype. The term “nonclassic” CF has been introduced to describe a group of patients who do not have the full spectrum of abnormalities seen in “classic” CF.
What type of protein is CFTR?
The cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for the disease cystic fibrosis (CF). It is a membrane protein belonging to the ABC transporter family functioning as a chloride/anion channel in epithelial cells around the body.
How was the name cystic fibrosis chosen?
The name was chosen because cystic means biliary area and fibrosis refers to the scarring of the tissue. So Cystic Fibrosis means tissue scarring of the biliary area. The American Pathologist Dr. Dorothy Anderson provided the first description of the disorder.
Does CF worsen with age?
People with CF experience a small but progressive (worsening) loss in lung function with every passing year, leading to increased symptoms as you age. Some children remain relatively healthy throughout childhood and only start to experience a decline in their lung function when they are teenagers.