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Cystic Fibrosis

Autor:   •  June 7, 2012  •  Essay  •  655 Words (3 Pages)  •  869 Views

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One chronic disease that affects a significant number of people worldwide is cystic fibrosis. Cystic fibrosis is an inherited disease that affects a person's lungs and digestive system. 70,000 people worldwide have cystic fibrosis, 30,000 of those in the United States. 1,000 new cases of cystic fibrosis are diagnosed every year, and more than 70% are diagnosed by age two. The predicted age of survival for a person with cystic fibrosis, is in their late 30s. However, now with more research and enhanced treatments, more people can expect to live into their 40s, and sometimes beyond.

A person with cystic fibrosis has a defective gene, which codes a protein that creates an uncommon thick mucus which is harmful to the digestive tract, and lungs. This mucus clogs the lungs, which leads to chronic lung infections that can cause death. This also causes shortness of breath and wheezing amongst people with cystic fibrosis, as well as persistent coughing. The mucus also obstructs the pancreas, while stopping natural enzymes from breaking down food and absorbing food, thus affecting the amount nutrition in the body negatively. Other symptoms include poor growth and weight gain even with a good appetite, difficulty in bowel movements, and salty-tasting skin.

The official gene associated with cystic fibrosis is CFTR, which is located on the long arm of human chromosome 7 and is 230,000 base pairs long. The protein it codes is 1480 amino acids long, and the normal CFTR protein is found in membranes of cells lining passages of the lungs, liver, pancreas, intestines, reproductive area, skin, and other transport pathways. The protein is a chloride ion channel that is important in creating digestive juice, mucus, and sweat. The protein has ATP-hydrolyzing domains, and domains including 6 alpha helices piece, which allow the protein to use ATP and which allow the protein to cross cell membranes. Defective versions of these proteins, as a result of gene mutation, lead to the development


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