Wilson disease

被引：22

作者：

Harada M. ^{[1
]}

机构：

[1] Second Department of Medicine, Kurume University School of Medicine, Kurume 830-0011

来源：

Medical Electron Microscopy | 2002年 / 35卷 / 2期

关键词：

ATP7B; Bile; Ceruloplasmin; Copper; Hepatocytes; Late endosomes; Wilson disease;

D O I：

10.1007/s007950200007

中图分类号：

学科分类号：

摘要：

Wilson disease is an autosomal recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion from hepatocytes. Recently, novel components involved in copper metabolism, including Menkes disease protein (ATP7A), Wilson disease protein (ATP7B), and copper chaperones, have been identified. It has been demonstrated that ATP7B functions in copper secretion into the plasma, coupled with ceruloplasmin synthesis and biliary copper excretion. However, the precise intracellular localization of ATP7B has been disputed. Various mutations of ATP7B have been reported in patients with Wilson disease, and investigations of genotypephenotype correlations are now being conducted in the patients. These recent findings provide us with information on the molecular pathogenesis of Wilson disease, as well as the biological mechanisms of copper homeostasis. In this review, recent advances in this field are briefly summarized.

引用

页码：61 / 66

页数：5

共 58 条

[1]

Wilson S.A.K., Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver, Brain, 34, pp. 295-507, (1912)

[2]

Kayser B., Ueber ein fall von angeborenen grunlicher, Klin Monatsbl Augenheilkd, 40, pp. 22-25, (1902)

[3]

Fleischer B., Zwei weitere falle von grunlicher verfarbung der kornea, Klin Monatsbl Augenheilkd, 41, pp. 489-491, (1903)

[4]

Fleischer B., Ueber eine der "pseudosclerose" nahestehende bisher unbekante krankheit, Dtsch Z Nervenheilk, 44, pp. 179-201, (1912)

[5]

Cumings J.N., The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration, Brain, 71, pp. 410-415, (1948)

[6]

Linder M.C., Hazegh-Azam M., Copper biochemistry and molecular biology, Am J Clin Nutr, 63, (1996)

[7]

Camakaris J., Voskoboinik I., Mercer J.F., Molecular mechanisms of copper homeostasis, Biochem Biophys Res Commun, 261, pp. 225-232, (1999)

[8]

Scheinberg I.H., Gitlin D., Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease), Science, 116, pp. 484-485, (1952)

[9]

Bearn A.G., A genetical analysis of 30 families with Wilson's disease (hepatolenticular degeneration), Ann Hum Genet, 24, pp. 33-43, (1960)

[10]

Sternlieb I., Van den Hamer C.J.A., Morrel A.G., Alpert S., Gregoriadis G., Scheinberg I.H., Lysosomal defect of hepatic copper excretion in Wilson's disease (hepatolenticular degeneration), Gastroenterology, 64, pp. 99-105, (1973)

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