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 whatthe causes of Cystic Fibrosis are. Cystic Fibrosis is caused by a mutation in a gene called CysticFibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is known as hotshot of the mostcommon life-shortening disease. More that 1,000 mutations in the CFTR gene check been found inpeople with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTRprotein and it deletes a small amount of DNA from the CFTR gene. I am going to explain whathappens when the CFTR proteins is functioning normally and when it is diseased.Introduction What is Cystic Fibrosis? Cystic Fibrosis is a inherited disorder that affects theexocrine gland of the lungs, liver, pancreas, and intestines, causing progressive disability due tomultisystem failure. Thick mucus and less competent immune system are the results for lunginfection. slight secretion of the pancreatic enzym es is the main cause of fatty diarrhea, poorgrowth, and the lack in fat-soluble vitamins 1. So far there is no cure for cystic fibrosis. In theUnited States 1 in 3,900 children are born with Cystic Fibrosis. Most of the people who have CFdie at young age, many of them in their 20s and 30s due to lung failure, but with the introductionof new treatments the life of persons with CF is increasing to ages as high as 40 or 501.Results Cystic Fibrosis is caused by a defect in the gene called Cystic Fibrosis TransmembraneConductance Regulator (CFTR) 2. The gene makes a protein that controls the water and salt thatcome in and out of cells. When the protein is working normally the carcass produces mucus, sweat,saliva, tears, and dig... ...inhaling antibioticsthat are used to treat chronic and acute affections. 1.Lung transplantation has become increasingly common for people wit Cystic Fibrosis. Livertransplant have also been successfully with patient with end of liver disease. Scientist are tryingto find a way to keep the ion channel open longer in order to allow more time for ion exchange. Afew attempts of gene therapy were successful, but failed to produce a long term result 6.Literature Citedwww.Wikipedia.org 1www.Chronicillness.suite101.com/article.cfm/what_causes_cystic_fibrosis2www.ghr.nml.nih.gov/ instruct=congenitalbilateralabsenceofthevasdefiniton3www.ionchannels.org 4www.google.com/images 5www.respiratory-lung.health-cares.net/cystic-fibrosis-complications.php 6http//www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml 7