Cystic Fibrosis Research Paper

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Cystic Fibrosis is one of the most common genetically inherited diseases affecting white men and women. Cystic fibrosis is a genetic disorder where abnormal amounts of mucus build up in many of the body’s organs especially the lungs and the pancreas. This build up of mucus in the lungs can lead to many persistent infections that can lead to damage and scarring over time. In addition, when this mucus collects in the gastrointestinal tract and around the pancreas it prevents digestive juices from aiding in the digestion process. In addition, this mucus buildup also prevents the production of insulin, a crucial hormone that is made in the pancreas and is necessary to control blood sugar levels (Cystic). The disease is present in 1 in every 2,500 …show more content…

The gene is found on the seventh chromosome in humans and contains 27 DNA sequences encoding 1,480 amino acids (Genetics). They found that the genetic change of this gene occurs through various mutations in the Cystic Fibrosis transmembrance conductance regulator or CTFR gene. Today 1,200 mutations are so far known. However, 70% of cystic fibrosis cases are caused by a single mutation, this mutation causes a deletion an amino acid at position 508 in the CTFR gene (Genetics). Once deleted the CTFR protein folds improperly and breaks down shortly after being made. Ultimately, every mutation affects the genes normal function as a channel protein. The CTFR gene crosses the membrane of many cell types, which is why the disease is referred to as a multisystem condition (Cystic). These cells are in charge of producing sweat, saliva, and tears. Its target is chloride ions whose movement in and out of the cell regulates the concentration of water in the tissue (Cystic). The movement of water is so crucial because it is responsible for keeping the mucus in our bodies thin and freely moving. So when mutations occur to this channel protein the flow of chloride ions is disrupted ultimately leading to the build up of thick damaging mucus associated with the disease

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