Genetic Defects in Cystic Fibrosis Transmembrane Conductance Regulator

Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what the causes of Cystic Fibrosis are. Cystic Fibrosis is caused by a mutation in a gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is known as one of the most common life-shortening disease. More that 1,000 mutations in the CFTR gene have been found in people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR protein and it deletes a small amount of DNA from the CFTR gene. I am going to explain what happens when the CFTR proteins is functioning normally and when it is diseased. Introduction: What is Cystic Fibrosis? Cystic Fibrosis is a genetic disorder that affects the exocrine gland of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. Thick mucus and less competent immune system are the results for lung infection. Less secretion of the pancreatic enzymes is the main cause of fatty diarrhea, poor growth, and the lack in fat-soluble vitamins [1]. So far there is no cure for cystic fibrosis. In the United States 1 in 3,900 children are born with Cystic Fibrosis. Most of the people who have CF die at young age, many of them in their 20s and 30s due to lung failure, but with the introduction of new treatments the life of persons with CF is increasing to ages as high as 40 or 50[1]. Results: Cystic Fibrosis is caused by a defect in the gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) [2]. The gene makes a protein that controls the water and salt that come in and out of cells. When the protein is working normally the body produces mucus, sweat, saliva, tears, and dig... ...inhaling antibiotics that are used to treat chronic and acute affections. [1]. Lung transplantation has become increasingly common for people wit Cystic Fibrosis. Liver transplant have also been successfully with patient with end of liver disease. Scientist are trying to find a way to keep the ion channel open longer in order to allow more time for ion exchange. A few attempts of gene therapy were successful, but failed to produce a long term result [6]. Literature Cited: www.Wikipedia.org [1] www.Chronicillness.suite101.com/article.cfm/what_causes_cystic_fibrosis[2] www.ghr.nml.nih.gov/condition=congenitalbilateralabsenceofthevasdefiniton[3] www.ionchannels.org [4] www.google.com/images [5] www.respiratory-lung.health-cares.net/cystic-fibrosis-complications.php [6] http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml [7]