Wilsons Disease Research Paper

Wilson’s disease (or hepatolenticular degeneration) is a rare genetic disorder that causes excess amounts of copper to build up in the body, thus creating copper deposits which ultimately inhibit the body’s ability to function properly. It is an extraordinarily fatal condition among people who are not diagnosed and treated, as the copper buildup commences immediately after birth.
Although most humans contain more copper in their bodies than is needed, it is usually eliminated through urine or bile, the dark yellow/brown fluid which is produced by the liver in humans. When bile is excreted from the liver, it is dispatched to the duodenum, a section in the small intestine which is the site of chemical digestion in humans. From there, the copper is broken down and sent to the jejunum to be absorbed by the body for use in various tasks such as the development of healthy nerves, bones, collagen (a protein essential for tissue support, development, and elasticity), and melanin (a pigment that gives color to human skin, hair, and eyes). However, people suffering from Wilson’s disease are unable to eliminate copper in their bodies properly, and therefore it accumulates in various tissues. This can then lead to significant damage in areas

Having a mutated ATP7B gene, and consequently a dysfunctional P-type ATPase protein, is considered to be an autosomal recessive trait. People who have this trait are able to pass it down to their offspring, who then become carriers of the gene themselves. However, since this mutation is a recessive trait, the affected offspring do not suffer from Wilson’s disease if only one parent is a carrier of the mutated ATP7B gene. Likewise, in the event that both parents are carriers of the recessive ATP7B mutation, the offspring will indeed inherit Wilson’s disease as a