Wilson's Disease was discovered by Dr. Samuel Alexander Kinnier Wilson in 1912. The disease is fairly rare as it affects just one in about forty-thousand people, equally affecting men and women (3). Wilson's Disease is a genetic disorder that stops the body from removing extra copper. The excess copper is then deposited into the liver, brain, kidneys, and eyes. These copper deposits can be fatal to tissues, which causes the affected organs to function improperly. While a small amount of copper is necessary to stay healthy, too much copper can be poisonous and may even lead to death (4).
For most, symptoms of the disease begin to appear between ages five to thirty-five (3). Symptoms can range from depression, to yellowing of the skin and eyes. Wilson's Disease can make moving your arms and legs very difficult as they may seem stiff. Because of this, walking will become difficult and those who have the disease will experience uncontrollable movement. As the copper deposits into the brain, those affected may go through personality changes, gain phobias, and experience confusion about most things. Half of patients experience their first symptoms due to the copper going in the central nervous system. These patients often have speech and language problems, as well as severe migraines Approximately 95% of people with this disease also have what is known as a Kayser-Fleischer Ring. The ring is golden-brown and located on the edges of the cornea. The ring forms as a result of copper deposition building up in the eye. Because of those deposits in the eye, it is difficult move the eye up-and-down and left-to-right. Vomiting blood and nosebleeds that take a long time to stop are also symptoms that occur for most patients (5).
Wilson's Disease can be easily diagnosed, but must be done early. Even before there are any physical symptoms of the disease, liver damage may already be occurring, which is why it is very important a diagnosis is made as soon as possible (4). There are many tests and procedures that can be used to determine if a patient has Wilson's Disease. Blood tests are used to measure the amount of a protein called ceruloplasmin in your blood. Those who have a small amount of this protein more than likely have the disease. A slit-eye lamp examination checks your eyes for a Kayser-Fleischer Ring which can easily be noticed as the disease develops even without the powerful light. Another test that can be used to determine if someone has Wilson's Disease is regular brain scan. The depositions of copper will be visible on the scan and would likely result in a diagnosis of Wilson's Disease (3).
Treatment of this disease must be continuous and lifelong. The main goal of treatment is to decrease the amount of copper the tissues contain. This is done by a procedure called chelation, in which medications attach to metals, in this case copper, and help get rid of them through the kidneys or gut. Medications such as penicillamine and trientine are recommended as they are chelating agents and increase the amount of copper released in the urine. Along with the medications, a low-copper diet is also necessary. Foods such as shellfish, chocolate, dried fruit, nuts, and avocadoes should be avoided (2). If treatment begins early and is enduring, life expectancy for those with this disease would be normal. However, if not treated properly or early enough, the disorder can cause loss of liver function which can be deadly (5).
Wilson's Disease is an autosomal recessive disease, which means it occurs equally in both males and females. In order for Wilson's Disease to be inherited to the offspring, both parents have to carry one genetic mutation that each parent then passes to the offspring. The gene responsible for the disease is located on chromosome 13 and is known as ATP7B. For the disease to be present, both genes in the cell must be damaged. Most patients do not have any family history of the disease yet the disease is passed on through parents who have one abnormal gene. These people are known as carriers and may also have small defects when breaking down copper (1).
The above Punnett square shows what the probability of the offspring receiving the disease if both of the parents were carriers. There would be a 25% chance the child would be perfectly healthy (WW). There is a 50% the child would be a carrier of the disease (Ww) and be able to pass it along to his/her children. There is a 25% the child would actually have the disease (ww).
The ATP7B gene is what gives directions during the creation of the protein known as copper-transporting ATPase 2. Copper-transporting ATPase 2 is mainly found in the liver, but is also present in lesser amounts in the kidneys and brain. It contributes in the moving of copper from the liver to other parts of the body as well as the removal of extra copper out of the body. In the Golgi apparatus, the copper-transporting ATPase 2 gives copper to ceruloplasmin. Ceruloplasmin acts as the messenger and transports copper to other parts of the body that need it.
Of the 250 ATP7B gene mutations that can possibly cause Wilson's Disease, about 50% of them modify one of the amino acids used to create copper-transporting ATPase. According to the Genetics Home Reference, 'A common amino acid substitution replaces the amino acid histidine with the amino acid glutamine at position 1069 in the protein (written as His1069Gln or H1069Q).' The symptoms of the disease can be a lot worse if the ATP7B gene has a small segment of DNA inserted in it or deleted from it. Because of the insertions and deletions, no ATP7B is produced or, if it is, a very small amount is made. When ATP7B is not produced, the protein ceruloplasmin is not created, causing the copper not to be able to be transported around and out of the body. If this is the case, the copper sits in one particular spot, most often the brain or liver, poisoning those organs and tissues which make them unable to function. The poisoned liver is what leads to liver damage and the jaundice. The cooper deposits in the brain lead to personality changes and speech impairment.
Source: Essay UK - http://www.essay.uk.com/free-essays/science/wilsons-disease.php
If this essay isn't quite what you're looking for, why not order your own custom Science essay, dissertation or piece of coursework that answers your exact question? There are UK writers just like me on hand, waiting to help you. Each of us is qualified to a high level in our area of expertise, and we can write you a fully researched, fully referenced complete original answer to your essay question. Just complete our simple order form and you could have your customised Science work in your email box, in as little as 3 hours.