Mutations Research Project

Mutations are changes in a nucleotide sequence which alter the structure of the DNA—this is either by insertion, deletion, or substitution. These errors are caused during the copying in replication. The effect they have on the organism can sometimes be positive, such as for promoting genetic diversity, but it also causes inherent diseases. These lethal mutations occur when there are specific errors in the protein sequence which create a partially or completely non-functional protein that plays a critical role in the body, and this is when medical conditions arise. A mutation present in a germ cell (gamete) will lead to hereditary diseases, and in this case it is possible that there is no seen family history of it. If the mutation occurs in a somatic cell, it will pass on to descendants of the organism. If the mutation allows the cell to become malignant, in can cause cancer.
Cystic Fibrosis is a genetic disorder that affects the secretory glands (ones that produce mucus and sweat). It is an autosomal recessive disorder, and because of that, two copies of the gene must be present in order for a person to be affected by it. If two parents who carry one mutation of the disorder have a child, it has a 25% chance of being affected by the disorder. The disease’s etiology is the affection of a certain gene, cystic fibrosis transmembrane conductance regulator (CFTR), by a mutation. That gene normal produces a chlorine ion channel which helps to create the “juices” that are inhibited/overstimulated by this disorder. Men can become infertile because of the inability to develop vas deferens before birth. Effects of the disease are a buildup of mucus in the alveoli—instead of creating a normal resin to keep the alveoli in the healthy condition, a mutation on the cilial epithilial cells of the infected patient will cause the body to produce a thicker resin. This inhibits the oxygen extraction, which leads to breathlessness. A high level of exercise is necessary for adequate breathing. Other symptoms are salty-tasting skin, poor growth and/or weight gain. Because of the settled mucus, patients are susceptible to many chest infections due to the bacteria that thrives in it. It is typically seen as a rare disease, but has been shown to be the most widespread of life-shortening diseases, occurring in 1 in 22 people of Mediterranean descent.
Lung transplantation is often necessary because of the weakening of the lungs and lowered tolerance to exercise. While normally a single lung transplant would be sufficient, people with CF cannot allow this because the remaining lung may have bacteria that could infect the new lung, thereby defeating the purpose. Another avenue that has been pursued is gene therapy, which places a copy of the CFTR gene into the affected cells. However, this method is seen (for the time being) as relatively ineffective because of the inflammation response and rejection during cDNA recombination.
Stem cells are beneficial because they have the ability to regenerate (through mitotic cell division) and also differentiate into many specialized cell types. Adult cells can be taken from umbilical cord blood and bone marrow. Some people become confused when ill informed on the issue, and this is where personal issues with its very existence come into play. As long as SCR does not harm anyone involved, I believe that it is a positive process. By utilizing something that would otherwise have been wasted, people are being given a better chance to live. If it is available, it is inconceivable why one should be denied of the basic right of life. However, the controversy does not encompass the entire field, but only the harvesting of human embryos. The use of adult stem cells, which are used without destroying anything, is actually common. The debate comes about when people say that the use of an embryo is a destruction of a life that should be protected. Opponents also say that reproductive cloning can devalue human life. Supporters of the research say that it should be encouraged because it could lead to unseen medical advances. All of these factors should be weighed in order to determine which sacrifices are necessary for the greater good.