Cystic Fibrosis Essay

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Cystic fibrosis is an autosomal recessive gene disorder. This disease affects the lungs most significantly. It also affects the pancreas, liver, and intestines, and various organs. This disease is characterized by the buildup of thick, sticky mucus that can damage vital organs. This abnormal mucus can clog the airways which will lead to severe problems with breathing and bacterial infections in the lungs. These infections will cause an individual to cough and wheeze. Inflammation is caused as well. Over time, mucus buildup and infections result in permanent lung damage which includes the formation of scar tissue and cyst in the lungs. Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) located on the 7th chromosome. This protein is required to regulate the components of sweat digestive fluids and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes. There are over 1,500 mutations of the CFTR protein. The most common mutation is F508, and is responsible for 30- 88% of cystic fibrosis chromosomes worldwide, depending on the race or ethnicity of the individual. The search for the cause of cystic fibrosis began many years ago however; it was difficult to locate the gene because researchers weren’t exactly sure what gene they were looking for. Everybody was unknowledgeable about what exact gene to look for because no one knew what was wrong with the cells. Finally, in 1989, Paul Quinton discovered the gene that needed to be found. This was the gene that involved movement of chloride, and other ions across the epithelium. After the discovery of this gene, it was concluded that the three base pairs missing in the majority of people with cystic fibrosis eliminated an amino acid at position 508 of the protein’s amino acid sequence, which is a mutation called F508. Once the cystic

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