Mercer J F
Centre of Cellular and Molecular Biology, School of Biological and Chemical Sciences, Deakin University, 221 Burwood Highway, Vic 3125, Burwood, Australia.
Trends Mol Med. 2001 Feb;7(2):64-9. doi: 10.1016/s1471-4914(01)01920-7.
Copper (Cu) is a potentially toxic yet essential element. MENKES DISEASE, a copper deficiency disorder, and WILSON DISEASE, a copper toxicosis condition, are two human genetic disorders, caused by mutations of two closely related Cu-transporting ATPases. Both molecules efflux copper from cells. Quite diverse clinical phenotypes are produced by different mutations of these two Cu-transporting proteins. The understanding of copper homeostasis has become increasingly important in clinical medicine as the metal could be involved in the pathogenesis of some important neurological disorders such as Alzheimer's disease, motor neurone diseases and prion diseases.
铜（Cu）是一种具有潜在毒性但又必不可少的元素。门克斯病是一种铜缺乏症，威尔逊病是一种铜中毒症，它们是两种人类遗传疾病，由两种密切相关的铜转运ATP酶的突变引起。这两种分子都将铜从细胞中排出。这两种铜转运蛋白的不同突变会产生相当多样的临床表型。随着铜可能参与某些重要神经系统疾病（如阿尔茨海默病、运动神经元疾病和朊病毒疾病）的发病机制，对铜稳态的理解在临床医学中变得越来越重要。
