Wilson Disease Research Paper

Wilson Disease is a genetic condition that causes a person’s body to store too much of the mineral copper. The short and most common name of this genetic condition is called “Wilson Diesease”, but other names such as “Copper Storage Disease” or “Hepatolenticular Degeneration Syndrome” occur when being very precise. Many people do not contract this disease as it only occurs in every one out of every thirty thousand people. This disease is not directly correlated with death, however if too much copper is built up in your organs the effects of it may cause death. To begin with, Wilson Disease may affect several different parts of the body, as well as different organs throughout. The most common cases have occurred along the liver, brain, and

This genetic condition is inherited in an autosomal recessive pattern, meaning it’s not on the X chromosome. A mutation in the ATP7B gene, located on chromosome

13, is responsible for Wilson’s disease. This gene is responsible for providing instructions to make a protein called copper-transporting ATPase. Without this gene functioning properly, it allows copper to build up in organs such as the kidneys, brain, and liver. In addition, Wilson Disease can’t be fully cured, but treatment is highly recommended. The treatment consists of eating foods low in copper, and taking a drug called Penicillamine. This drug binds all of the copper together and leads to the secretion of the copper through urinating. There are many different ways to be tested such as: Linkage Analysis, Gene Sequencing, and Specific Location Analysis. Wilson Disease isn’t a very common genetic disorder and doesn’t occur in a specific population of people. Only around 600 people in the United States have been tested to have Wilson Disease, and 1% of the population is a carrier of this genetic