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Wilson's Disease

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Progressive hepatolenticular disease, or more commonly known as Wilson’s Disease, is a rare autosomal recessive genetic disorder of copper metabolism that is characterized by hepatic and neurological disease. It was first described by as a syndrome by Kinnier Wilson in 1912, however, the advancements in scientific technology and understanding have allowed a better understanding of the cellular biology, genetic basis, and treatments of Wilson’s Disease since the time of Kinnier Wilson. Individuals affected by the disease, which is one in 30,000 and one in 100,000 individuals (Ala, Walker, Ashkan, Dooley, & Schilsky, 2007), are not able to properly excrete copper from the body through bile, which leads to a toxic accumulation of copper in the …show more content…
Therefore, there are several ways in which Wilson’s Disease can present itself. Symptoms of Wilson’s Disease first appear later in an individual’s life, typically around the second and third decades of life. About 5% of patients present hepatically with symptoms such as persistently elevated serum aminotransferases, chronic hepatitis, decompensated or compensated cirrhosis, and fulminant hepatic failure (Ala, Walker, Ashkan, Dooley, & Schilsky, 2007). Neurological and neuropsychiatric signs are the predominant symptoms of Wilson’s Disease in 40-50% of patients with symptoms including tremor, choreiform movements, parkinsonism or akinetic rigid syndrome, gait disturbances, dysarthria, pseudobulbar palsy, rigid dystonia, seizures, migraine headaches, insomnia, depression, neuroses, personality changes, and psychosis (Ala, Walker, Ashkan, Dooley, & Schilsky, 2007). Lastly, Wilson’s Disease can present with ophthalmic changes, such as the appearance of Kayser-Fleischer (K-F) rings, which are caused by the deposition of excess copper on the inner surface of the cornea, and sunflower cataracts, which are multicolored clouding of the normally clear lens of the …show more content…
Although there are other members of the P-ATPases, what distinguishes the CPx-type is the presence of an additional pair of transmembrane helices and a cytoplasmic metal-binding domain at the N terminus of the polypeptide. Also, the histidine and proline residues are highly conserved in heavy metal-transporting ATPases (Fatemi and Sakar, 2002). This results in what is called the H1069Q mutation (the most common of ATP7B mutations), because the histidine to glutamate substitution has been located at amino acid site 1069 (Fatemi and Sakar,

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