Cystic Fibrosis Research Paper

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

births meaning that every one in 25 people are carriers of the cystic fibrosis gene (Genetics). However, the disease is scarce in those of Asian or African decent, so scarce that 1 in 190,00 births are likely to inherit the disease (Genetics). Because of the diseases prevalence in the Caucasian population scientist have determined that the cystic fibrosis gene is a Mendelian autosomal recessive gene meaning that each parent must each carry a copy of the mutated CFTR gene (Cystic). The parents do not show symptoms of the disorder because they contain one normal copy and one mutated copy of the gene and are considered “carriers” of the disease (Cystic).
A geneticist by the name of Lap-Chee Tsui discovered the Cystic Fibrosis gene in 1989 (Winikates).

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

(Cystic).
Today newborn babies in the United States go through various tests to determine if they contain the disease. One of the most common tests involves taking a blood sample. The sample is then checked for a substance known as immunoreactive trypsinogen that is released by the pancreas. High levels of this chemical are a good indication that the infant has Cystic Fibrosis. When an infant is diagnosed with the disease there is unfortunately no cure, only various treatments can be administered. These treatments vary from patient to patient. However, there are many popular medications being used today. Some of the medications help prevent lung infections, help to thin the mucus, and help decrease inflammation. There are many other chest therapies and nutritional restrictions that many patients undergo. However cystic fibrosis is a life long disease that each person uniquely battles (Mayo).