Cystic Fibrosis and Its Treatment - Essay Example

Name: Instructor: Course: Date: Cystic Fibrosis. Cystic Fibrosis is a disease that comes as a result of the genetic disorder. It affects the lungs of the affected persons significantly. This causes breathing difficulty and frequent mucus cough. Other body organs affected by this genetic disorder include liver, intestine, pancreas and kidney (Thomson and Ann, 9). Cystic Fibrosis is inherited in an autosomal recessive manner. This could be due to the mutation of genes, which are changes in genetic composition within the gene interfering with the normal functioning of the gene. The mutations bring about abnormalities within the gene structure. The final results of this gene make-up variations are genetic disorders. The Cystic Fibrosis is regarded to be most common among the Northern Europeans and was first recognized in 1938 by Dorothy Andersen (Thomson and Ann, 17). The disease is diagnosed by methods including newborn screening, sweat testing, and genetic testing. Cystic Fibrosis disease currently does not have a cure but can be controlled through antibiotics for instance in the case of lung infections. Therapy practices are also considered as ways of managing the disease. Part 2: The disease. As mentioned above, the disease Cystic Fibrosis a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The type of mutation exhibited in this case is deletion. This involves complete removal of a section of the gene involved. In this case, three nucleotides are deleted resulting in a loss of an amino acid, phenylalanine from the protein chain. Every amino acid is responsible for a particular characteristic in the phenotypic outcome and therefore once that amino acid is not synthesized a genetic disorder result (Giddings, 75). The disease causes problems such as lung problems, kidney, pancreas and liver problems. Lung problems include breathing difficulties and lung infections. These come as a result of clogging of airways within the lungs due to mucus accumulation, reduced mucociliary clearance and finally lung inflammation. It is worth noting that inflammation and infection may result in serious injury and structural changes to the lungs. The infections are caused by a bacteria that inhabit the mucous and rapidly grows out of control causing pneumonia. This condition results to hemoptysis which is the coughing of blood, pulmonary hypertension, heart failure, hypoxia and respiratory failure (Giddings, 81). Cystic Fibrosis exhibits the following signs and symptoms; unhealthy development, salty-tasting skin, accumulation of fats, poor weight gain despite normal food intake, sticky mucus, coughing or shortness of breath, and frequent chest infections. Infertility in male due to congenital absence of the vas deferens. Most of these symptoms usually are observed at infancy and childhood stages. Mass abnormal mucus production is caused by a protein mutation on the ciliated epithelial cells of the affected persons (Giddings, 85). At the physiological and cellular level, mutations result in numerous defects in the CFTR protein. This results in the creation of proteins that do not fold normally and are therefore not efficiently transported to the cell membrane, leading to its degradation. Some mutation results in the formation of truncated proteins due to premature protein production ending. Again a few mutations produce proteins that: don't utilize energy typically. In addition, they don't permit chloride, iodide, and thiocyanate to cross the membrane suitably, at a quicker rate than ordinary. Mutations may likewise prompt less copies of the CFTR protein being created. The protein made by this gene is situated on the external layer of cells in the sweat glands, lungs, and pancreas. The protein encompasses this layer and gives a way of connecting the cytoplasm to the encompassing liquid. It is significantly in charge of controlling the proper movements of halogens from inside to outside of the cell; be that as it may, in the sweat ducts, it enables the development of chloride from the sweat duct into the cytoplasm (Orenstein, Beryl, and Robert, 15). At the point when the CFTR protein does not resorb ion in sweat gland, chloride and thiocyanate discharged from sweat glands are caught inside the ducts and pumped to the skin. Also, hypothiocyanite can't be created by using the immune defense system. Since chloride is negatively charged, this makes a distinction in the electrical potential inside and outside the cell making cations cross into the cell. Sodium is the most widely recognized cation in the extracellular space. The existence of excess chloride inside sweat conduits prevents sodium reabsorption through epithelial sodium channels, and the blend of sodium and chloride makes the salt, which is lost in high amounts in the sweat of people with Cystic Fibrosis (Orenstein, Beryl, and Robert, 49). Cystic Fibrosis is a related genetic disease that is inherited by the offspring from the parents. The traits of this disease are passed from the parents to offspring by genes. This condition is acquired in an autosomal latent example, which implies both copies of the gene in every cell have a distinctive mutation. The parents of those that are characterized by an autosomal latent condition convey one duplicate of the mutated gene, yet they usually don't show underlying signs and side effects of the condition. A couple that is both characterized by carriers, contain the Cystic Fibrosis but in the inactive state, the disease is not phenotypically expressed, have chances that their children, at least one will have the disease. The above shows an autosomal recessive pattern of inheritance. The Cystic Fibrosis is in recent more common in America, having the largest number of newborn babies with these diseases. This relates to the genetic history of the American population. The gene mutation ancestry thus being experienced over in this region has been passed from the parent to the children. Statistics show that one out of 3000 newborn babies America among the Caucasian couples suffer from the Cystic Fibrosis (Giddings, 72). The CFTR gene, found at the locus of chromosome 7, is 230,000 base matches long and makes a protein that is 1,480 amino acids long. Particularly the area is between base pair 117,120,016 to 117,308,718 on the long arm of chromosome 7, district 3, band 1, sub-band 2 (Kepron, 53). The result of this kind gene (the CFTR) is viewed as a chloride ion that is directly responsible in making sweat, mucus and digestive juices. This is characterized by two ATP-hydrolyzing spaces, which allows the protein to use energy as ATP (Kepron, 55). The carboxyl terminal of the protein is secured to the cytoskeleton by a PDZ area correspondence.. These mutations alter the initially DNA structure of the gene. A new, different combination is formed with various coded genetic instruction from the originally intended (Kepron, 63). During deletion mutation, a section of the gene is lost completely. Therefore, the coded information is also lost. The result of this is a synthesis of an entirely different type of amino acid. The newly formed amino acid contains incomplete information, and therefore, the protein synthesized out of this results to a genetic disorder. Apart from the genetic concept, there are other factors involved in Cystic Fibrosis disease. These include environmental factors and social factors. The environment has a significant impact on human being well-being, growth, and development. Factors like temperature and humidity affect human development. For instance, during dry seasons, a lot of dust is experience (Kepron, 67). Dust contain bacteria that causes infection to the lungs when inhaled. Therefore, lung infection is not only caused by genetic disorder. This is a condition that can also be due to environmental factors. Human diet again is a causal factor to the Cystic Fibrosis condition. Most human diets are not healthy. The Cystic Fibrosis condition is partly caused by a deficiency of some essential mineral and vitamins. These minerals and vitamins are the basis of elements that are necessary for DNA function. The human body cells also require nutrient and energy. All these are only got from a healthy balanced diet. It is evident that such disease can be eliminated by proper healthy diet intake (Giddings, 123). Treatment. The primary goals of treatment of Cystic Fibrosis include the following; Preventing and controlling lung infections Preventing or treating blockages in the intestines Loosening and removing thick, sticky mucus from the lungs Preventing dehydration Providing enough nutrition The treatment can be done in several ways and basically to the affected organs of the body. Lung problems for instance lung infections are managed through medication. This involves majorly the administration antibiotics which kill the bacteria causing infections (Orenstein, Beryl, and Robert, 41). Physical chest therapy also helps in managing this disease. It involves pounding chest and back several times by one's hand to loosen the mucus from the infected person and then coughing it up. This is advised to be done while sitting down or lying on the stomach. The infected person should also engage in vigorous exercise. This will accelerate the breathing rates thereby loosening mucus buildup within the airways so that it is coughed up. Exercise again improves the body physically. Advanced lung problem may call for a medical lung transplant (Orenstein, Beryl, and Robert, 55). There is also nutritional therapy for the associated digestive problems. This therapy improves on strength and ability to remain active. A healthy nutrition also boosts the immunity to fight against the lung infections and any other infections within the body. Work cited Giddings, Sharon. Cystic Fibrosis. New York: Chelsea House, 2009. Print. Horsley, Alex, Steve Cunningham, and Alistair Innes. Cystic Fibrosis. Oxford: Oxford University Press, 2010. Print. Kepron, Wayne. Cystic Fibrosis: Everything You Need to Know. Buffalo, NY: Firefly Books, 2003. Print. Orenstein, David M, Beryl J. Rosenstein, and Robert C. Stern. Cystic Fibrosis: Medical Care. Philadelphia [u.a.: Lippincott Williams & Wilkins, 2000. Print. Thomson, Anne H, and Ann Harris. Cystic Fibrosis: The Facts. Oxford: Oxford University Press, 2008. Internet resource. Read More