The molecular basis of copper-transport diseases

Copper (Cu) is a potentially toxic yet essential element. Menkes disease, a copper deficiency disorder, and Wilson disease, a copper toxicosis conditi on. are two human genetic disorders, caused by mutations of two closely rel ated Cu-transporting ATPases. Both molecules efflux copper from cells. Quit e diverse clinical phenotypes are produced by different mutations of these two Cu-transporting proteins. The understanding of copper homeostasis has b ecome increasingly important in clinical medicine as the metal could be inv olved in the pathogenesis of some important neurological disorders such as Alzheimer's disease, motor neurone diseases and prion diseases.