Abstract
Copper is an essential trace element that is important for proper growth and development and plays a role in many normal metabolic processes. Copper deficiency leads to failure of many of these processes, while excess copper can lead to oxidative stress and cellular injury by impairing protein and mitochondrial function and modifying expression of genes. Maintaining appropriate homeostasis for copper levels requires a balance between the absorption of this essential element from our diet by the small intestine and elimination of excess copper by excretion from the liver into bile for elimination in stool. ATP7B is an important transport protein in liver cells that assists in transporting copper to bile and also in incorporating copper into the protein ceruloplasmin that is secreted by liver cells into the circulation. Ceruloplasmin is an important protein that is mostly involved in iron metabolism. Wilson disease (WD) is a genetic disorder that results from absence or altered function of the ATP7B protein that causes copper accumulation in the liver and later in other organs. Copper accumulation leads to cell injury, causing a chronic inflammatory state that can ultimately lead to fibrosis and cirrhosis of the liver, and injury to the brain that causes neurologic and psychiatric symptoms. Current therapies for WD aim to block absorption of dietary copper or enhance elimination of copper from the sites in the body to prevent further injury and restore normal cellular function.
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To, U., Schilsky, M.L. (2018). Introduction to Copper Metabolism and Wilson Disease. In: Schilsky, M. (eds) Management of Wilson Disease . Clinical Gastroenterology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-91527-2_1
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