Copper: Wilson and Menkes Diseases

Wilson and Menkes diseases epitomise the fundamental biological problem of the transport and utilisation of copper in the human body — coping with an element which is essential, but toxic. We must have evolved very efficient systems for transporting copper safely to the sites within the body cells where it is needed. The two diseases represent failures of this sophisticated system due to faults in two different genes which encode two of the proteins involved in the copper transport system. In Wilson disease we see toxic consequences of copper accumulation, and in Menkes disease we meet most of the effects that have ever been ascribed to copper deficiency in other species. Recently, the genes have been cloned in Wilson disease [1] and Menkes disease [2]. They are so similar that sequences from the Menkes disease gene were used to isolate Wilson disease cDNA. More detailed analyses must be awaited before complete explanations of pathogenesis can be given.