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

[41]

Zhou B., Gitschier J., hCTR: A human gene for copper uptake identified by complementation in yeast, Proc Natl Acad Sci USA, 94, pp. 7481-7486, (1997)

[42]

Hamza I., Klomp L.W.J., Gaedigk R., White R.A., Gitlin J.D., Structure, expression and chromosomal localization of the mouse Atox1 gene, Genomics, 63, pp. 294-297, (2000)

[43]

Klomp L.W.J., Lin S.-J., Yuan D.S., Klausner R.D., Culotta V.C., Gitlin J.D., Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis, J Biol Chem, 272, pp. 9221-9226, (1997)

[44]

Sato M., Gitlin J.D., Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin, J Biol Chem, 266, pp. 5128-5134, (1991)

[45]

Harris Z.L., Takahashi Y., Miyajima H., Serizawa M., MacGillivray R.T.A., Gitlin J.D., Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism, Proc Natl Acad Sci USA, 92, pp. 2539-2543, (1995)

[46]

Harris Z.L., Gitlin J.D., Genetic and molecular basis for copper toxicity, Am J Clin Nutr, 63, (1996)

[47]

Smallwood R.A., Williams H.A., Rosenoer V.M., Sherlock S., Liver-copper levels in liver disease studies using neutron activation analysis, Lancet, 2, pp. 1310-1313, (1968)

[48]

Harada M., Sakisaka S., Yoshitake M., Shakadoh S., Gondoh K., Sata M., Tanikawa K., Biliary copper excretion in acutely and chronically copper-loaded rats, Hepatology, 17, pp. 111-117, (1993)

[49]

Gruenberg J., Maxfield F., Membrane transport in the endocytic pathway, Curr Opin Cell Biol, 7, pp. 552-563, (1995)

[50]

Kobayashi T., Beuchat M.H., Lindsay M., Frias S., Palmiter R.D., Sakuraba H., Parton R.G., Gruenberg J., Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport, Nature Cell Biol, 1, pp. 113-118, (1999)

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