Wilson's Disease: The Effects of Copper Toxicity in the Body

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Dr. Samuel Alexander Kinnier Wilson was a British neurologist who first described a pathological change of the brain and liver in 1912. Wilson's work was based off of different reports and studies from many studies including a German neurologist by the name of Dr Carl Westphal in 1883, who termed these changes "pseudosclerosis", by a British neurologist named Sir William Gowers in 1888, who similarly identified the combination of neurologic and liver disease (Rosencrantz and Schilsky, 2011, pg. 246) and by Dr Adolph Strümpell in 1898, who noted hepatic cirrhosis. In 1948, a professor by the name John N. Cumings made the link with copper accumulation in both the liver and the brain (News-Medical, 2014). Copper is an essential trace element that is crucial to the health of humans. It is necessary for many different functions in the human body including the transportation of electrons, the formation of the skin pigment melanin, maintaining the myelin sheath which covers nerves, helping in the synthesis of phospholipids, as well as many other things (Subhranita, 2012). Copper is necessary in brain and liver function, and is usually secreted in bile. However, sometimes the copper does not properly excrete through bile, and the buildup of copper can lead to some diseases, like Wilson’s disease, which is a genetic disorder that prevents the body from eliminating extra copper. This leads to a buildup of copper in the liver, which can eventually spill into the bloodstream, affecting the brain, eyes and other organs. This buildup can cause life-threatening damage to the affected organs.

Wilson’s disease is a rare genetic disorder, usually affecting about 1 in 40,000 people, and has an equal effect on both men and women. The dise...

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... from https://www.genome.gov/27532725#al-3

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