Cystic Fibrosis Research Paper free essay sample

Without the cystic fibrosis variation of the CFTR gene, the CFTR proteins created by the gene act as a channel protein which can be found in the membranes of cells which line the passageways of organs such as the pancreas, lungs, and intestines. The CFTR protein can be modified in numerous ways to give the host cystic fibrosis; in fact, over 1000 transformations of the CFTR gene have been recognized. One of the most common of these mutations is a deletion of a single amino acid from the long chain of 1480 in the CFTR protein. This causes a breakdown of the channel made with the missing amino acid, which means that it never transports chloride ions, like it was made to do, because it never reaches the cell membrane. This mutation is delta F508, because the deletion occurs at position 508 on the CFTR protein. These sorts of mutations work to deteriorate and destroy the efficiency of the CFTR protein by changing or replacing parts of the protein’s amino acid order. This order chooses the way that the protein is folded, and if this order is changed or altered, the way that the protein will also be modified, causing the protein to not be able to work. In this case, the protein is a protein channel inside a membrane, and if folded improperly, the molecules that would normally pass through it are not able to, which means that the structure has failed to do its task, which is the transport of chloride and sodium across epithelium (tissues). This failure is caused by the altered fold of the protein, because proteins function only when the proteins are folded perfectly. When folded improperly, the substances for which the protein was made cannot fit through the protein channel, and so cannot pass through it. The phenotype or physical appearance of anyone with the autoimmune disease cystic fibrosis varies, as there are multiple possibilities and combinations, but have many recurring traits. Some of these visible traits include Delayed growth, failure during childhood to gain weight in a â€Å"normal† manner, bursts of weight loss, copious and unnatural production of phlegm, and scarring. Most of the phenotypes of cystic fibrosis do not show is a visible manner in the very early stages of human life. However, about 20% of babies with CF will be born with meconium ileus, which is a severe intestinal obstruction. The lack of certain transport molecules also prevents nutrient absorption, which causes a huge appetite. Cystic fibrosis was discovered in the 1930s by the Bohemian pathologist Carl von Rokitansky, who made the first description of the disease as part of a report about a death of a fetus. In 1938, Dorothy Andersen M. D. wrote the first comprehensive report on cystic fibrosis and also named it, referring to the cysts in the pancreas of children and an elevated amount of fibrous tissue. In 1955 a group of parents founded the Cystic Fibrosis Foundation, which later became the National CF research Foundation in 1955 as well. In 1980,b The foundation created the Research Development Program, which is a network of research centers at top universities. In 1989, the single most important discovery in cystic fibrosis research was made; the discovery of the CFTR gene in the human body, which led to scientists understanding cystic fibrosis at its most basic level. With the knowledge of this gene, scientists could also, for the first time, synthesize a healthy version of the gene for research. The first gene therapy for patients with cystic fibrosis occurred in 1993, which truly started further studies in CF gene therapy. Cystic fibrosis comes with many odd symptoms which are caused by the defects in the CFTR gene’s amino acid sequence. Because cystic fibrosis helps to prevent the movement of salt and water in and out of cells, the lungs and pancreas begin to secrete thick mucus, which will eventually block passages within the body, eventually rendering the passageway useless from clogging. As an example, mucus lines the membranes of many internal organs in order to protect the organ. The protein channels placed inside the membranes allow chloride ions to pass through, and because of H20’s (water’s) polarity, the water molecules are dragged along with the ions, which also thins the mucus inside the cells. Without the movement of the chloride ions, the mater and mucus cannot move out, causing a buildup of mucus. In the pancreas, these unusable passages prevent the secretion of the necessary digestive enzymes from the pancreas to the intestine, meaning that an inability to digest any kind of food, especially fats and proteins. Another major symptom is being extremely underweight and malnourished. This is caused by the other symptom of not being able to digest foods and retain nutrients. In fact, this symptom of not being able to absorb nutrients or digest foods causes many other symptoms. Diabetes is one of them. As damage to the pancreas from unusable protein channels increases, more and more insulin-producing pancreatic cells are destroyed, causing type-1-diabetes from lack of insulin. In the lungs, the production of the thick mucus also increases the likelihood of infection, so people with cystic fibrosis are known to have lungs with copious amounts of bacteria in them. Other common symptoms include salty-tasting skin, loss of appetite, weight loss, fatigue, coughing, increased mucus in the lungs and sinuses, recurring episodes of pneumonia, inflammation of the pancreas, and infertility for men. Because cystic fibrosis is a hereditary disease, different populations are more or less likely to have this mutation in the CFTR gene. About one in every twenty-five Americans of European descent is a carrier of the gene, though possibly not infected fully with cystic fibrosis. Remember, you need to have the mutation in BOTH of your CFTR genes to have cystic fibrosis. ) One in every seventeen-thousand African Americans is a carrier of the mutated gene, and one in thirty-thousand Asian-Americans is a carrier. Overall, the Caucasian race is most susceptible to having cystic fibrosis. The various treatments for cystic fibrosis have improved astronomically since the disease was first discovered. In the year 1962, patients with cystic fibrosis had a median or ave rage life span of about ten years. Treatment has developed to the point that the average age to which cystic fibrosis patients survive has been raised to forty-one years of age. When cystic fibrosis was first discovered, there were no treatments available. In 1989, when the CFTR gene was discovered, scientists were intrigued, and in 1993, gene therapy for cystic fibrosis patients began. Since then, scientists have learned much more about how cystic fibrosis affects humans, and many different treatments have been developed to counter some of these symptoms. Simple exercise is always good for patients with cystic fibrosis, because it will help to sweat out the excess salt that cannot get out of the body because of unusable protein channels. There are antibiotics to help prevent bacterial build-up in the lungs and sinuses. Pills have also been developed to thin mucus in order to prevent the extraneous buildup of mucus in the body. To solve problems of lack of nutrition or vitamins, injections can be arranged, of the nutrients themselves, or of enzymes that the pancreas naturally makes. Currently, even through years of research and progress, there is no true cure for cystic fibrosis. However, many different medications and activities help to lower chances of harmful symptoms of cystic fibrosis and help to prevent certain fatal events from occurring. Current research is mostly held at places such as the Cystic Fibrosis Research Development Program Center, where there is research funding. Most of the hope in curing or treating cystic fibrosis has been placed on drugs and gene therapy. These drugs that are being synthesized have characteristics meant to counter the symptoms of cystic fibrosis, such as the overproduction of mucus, bacteria buildup in the lungs, and infection.