Genetic Defects in Cystic Fibrosis Transmembrane Conductance Regulator Essay

Genetic Defects in Cystic Fibrosis Transmembrane Conductance Regulator Essay

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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...

... middle of paper ...

...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: [1][2][3] [4] [5] [6] [7]

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