Essay on The Cystic Fibrosis Transmembrane Regulator Gene

Essay on The Cystic Fibrosis Transmembrane Regulator Gene

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Cystic fibrosis is a genetically inherited disease due to a mutation in the CFTR gene. This disease causes life changing health complications that affect many organs within the human body. There is always ongoing research for this disease to discover better treatment options that are more effective and possibly find a cure to reverse the mutated gene.
The Cystic fibrosis transmembrane conductance regulator gene (CFTR) is responsible for providing the instructions to help make the protein that produces mucus in the body. A single mutation of the gene is all it takes for it to create Cystic fibrosis. The location of the gene is in the long arm of the chromosome seven at position 31.2. There has been over five-hundred defects discovered, however roughly seventy percent of people with cystic fibrosis have the same genetic mutation called Delta-F508 (Rosick, 2010). The CFTR protein functions as a channel across the membrane of the cells that are responsible for producing mucus, saliva, sweat, tears, and digestive enzymes. The protein also helps regulate the functions of other channels that transport positively charged particles, sodium ions, across cell membranes. The ions are important for the production of thin and free flowing mucus where it is secreted in the body (Rowe, 2016). When the ions are not released from the mucus producing cells the viscosity of the mucus becomes extremely thick and sticky. As the mucus becomes thick it will cause congestion of the passageways, especially in the pancreas where digestive enzymes won’t be properly secreted as well as decreasing oxygen exchange in the lungs (Rosick, 2010). The CFTR gene is also seen as responsible for other genetic changes besides cystic fibrosis. The other common genetic c...

... middle of paper ... plans to treat cystic fibrosis life expectancy has increase a lot over the years as well as living close to normal lives. Approximately half the people who have cystic fibrosis live past the age of thirty years old. People who are born today are thought to live to or surpass the age of forty because of the new and improving medical technology in the healthcare field (Rosick, 2010).
All in all, cystic fibrosis is a disease that can defiantly change someone’s life forever, all because of a small single mutation in a single gene. Even with all the care plans and treatments and even transplants death is still a high outlook, especially if you get extremely sick with a bacteria or a virus. On a better note, with all the research trying to find a cure and better treatment many people are living a close to normal life as much as they can with only certain limitations.

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