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...
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...care 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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- Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what the causes of Cystic Fibrosis are. Cystic Fibrosis is caused by a mutation in a gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is known as one of the most common life-shortening disease. More that 1,000 mutations in the CFTR gene have been found in people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR protein and it deletes a small amount of DNA from the CFTR gene.... [tags: Biology Medical CFTR Cystic Fibrosis]
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- Cystic fibrosis (CF) is a generated from a defect in the cystic fibrosis transmembrane regulator gene (CTFR). A typical individual with a functioning CTFR gene will produce a thin and lubricating mucous, but with a defective gene the individual produces a mucus that is thick and viscous. Organs that rely heavily on secretions of mucus are the lungs, pancreas, and intestines. A person with CF though has trouble with the thickness of the mucus and these organs struggle to function properly. The airways in a normal lung have a light coating of mucus, whereas a person with CF has thick and sticky mucus lining the airway.... [tags: PH, Carbon dioxide, Acid, Bicarbonate]
1167 words (3.3 pages)
- The membrane of various cells throughout the body hold CFTR protein channels, which control the transport of ions in and out of the cells to sustain pH homeostasis, electrically charged chloride ions (salt) levels, and fluid levels within epithelial tissues. Akabas (2000) describes the CFTR as an ATP-binding cassette (ABC) membrane transporter gene. There are 1480 amino acids producing two halves connected by the cytoplasmic regulatory domain (R-domain). The two halves create channels that allow negatively charged chloride ions to travel out of the cell (Thomson and Harris, 2008).... [tags: cftr protein, cell membrane, cf patients]
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- The effects of cystic fibrosis can be broken down to a micro-perspective investigation in both the genotype, the encoding of the DNA, and the phenotype, the expression of DNA to trait. A precursor to the expression of cystic fibrosis, is through the inheritability pattern of cystic fibrosis from both parents. Cystic fibrosis is an autosomal recessive disease, meaning in the DNA of each parent, each had one copy of these recessive trait which is not expressed through them. However, with both parents being carriers, the offspring has a 25% chance of inheriting cystic fibrosis, a 25% chance of inheriting non-mutated genes and a 50% chance of being a carrier of the cystic fibrosis gene (Mayer-Ha... [tags: Mutation, DNA, Gene, Cystic fibrosis]
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- There are many ways in which a gene mutation can leave a protein unaffected. This is due to silent mutations. Other mutations, missense, sense, or nonsense mutations have a more dramatic affect. One result of a missense mutation is sickle-cell anemia in which a hydrophilic amino acid is exchanged for a hydrophobic one. This causes the proteins to come together and create sickle-shaped blood cells. Polycythemia is a result of a nonsense mutation; a hemoglobin protein is shortened and results in thickened blood.... [tags: DNA, Mutation, Point mutation, Gene]
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- Overcoming Proteasomes: One Step Closer to a Cure for Cystic Fibrosis Take a deep breath and consider how easy it was to do so. Now picture struggling and gasping for air everyday; normal, easy tasks to the average person prove to be quite challenging to a patient of cystic fibrosis. Scientists have always been daunted by this fatal genetic disease that affects the body by excreting a “thick mucus” in the lungs, making breathing difficult and blocking the “ducts” leading from the pancreas, causing “poor digestion of food” (1).... [tags: Proteasomes Cystic Fibrosis]
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- Cystic fibrosis is a chronic, inherited, life threatening disease that affects organs in the body, because of sticky and thick mucus buildup on organs. The organs that are affected are the liver, lungs, pancreas, and intestine, which does damage to the respiratory, digestive and reproductive systems (Crosta). Cystic fibrosis is caused by a mutation in a gene called cystic fibrosis trans-membrane regulator, also called CFTR, which has an important function of creating sweat, mucus and digestive juices (Crostra).... [tags: chronic disease, transporter gene, CFTR]
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- For a child with cystic fibrosis life is mostly a series of respitory infections doctors visits and medications. Cystic fibrosis causes a build up of mucus in th lungs making breathing difficult . The thick mucus coats the hairlike projections lining air passage weakening the bodys immune system .Excess mucus interfers with the functioning of other oragns too.In the liver and pancreas mucus blocks the flow of the digestive enzymes in the intestine so food is not digested properly. Worn down by the repeated bouts of illness a cystic fibrosis patient rarely lives beyond his or her twenties.... [tags: essays research papers]
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- CF is caused by an inherited recessive genetic defect that is most prevalent in the white population. About 1 in 23 people in the United States carry at least one defective gene, making it the most common genetic defect of its severity. CF patients suffer from chronic lung problems and digestive disorders caused by a cellular defect in the transport of chloride ion. The problem in chloride handling results in loss of chloride in sweat which, in fact, is the basis for the clinical diagnosis of CF.... [tags: Biology Genetic Defect]
3953 words (11.3 pages)
- Cystic Fibrosis is a severe hereditary disease that infects the lungs, digestive system, sweat glands and male fertility. The name Cystic Fibrosis derives from the Fibrous scar tissue that develops in the pancreas. First recognized in 1938, cystic fibrosis is generalized as an autosomal recessive disorder of the exocrine glands. About one in every 2500 Caucasians is affected, and one in 25 is a carrier of the cystic fibrosis gene. Cystic fibrosis is the most common fatal hereditary disorder of Caucasians in the United States and is the most common cause of chronic lung disease in children and young adults.... [tags: essays research papers fc]
1123 words (3.2 pages)