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 disease is inherited by people who receive two abnormal copies of the ATP7B gene. The ATP7B gene is responsible for exporting copper out of cells, such as the efflux of hepatic copper into bile (Bethesda 2014).
Anatomy and physiology of the liver
The liver, which roughly weighs 1.2-1.6 kg, performs many of the necessary functions in order for our body to properly remove toxins, and keep the body in a homeostatic state. It is located on the right side of the body under the lower ribs, and is divided into four main lobes. The four lobes are the right lobe and left lobe, located on the anterior view of the liver, and the caudate lobe and quadrate lobe, located on the visceral surface and posterior view of the liver (Netter, 2011, pg. 277). The hepatic artery, which comes from the heart, carries oxygenated blood to the liver, and the portal vein, which brings blood from the small intestines that is rich in nutrients, also goes to the liver. These blood vessels divide into smaller vessels, and eventually end in capillaries, within the thousands of lobules of the liver. The lobule is the functional unit of the liver. Each lobule is made of hepatocytes, and as blood passes through these hepatocytes, they are able to...