Pathophysiology and clinical features of Wilson disease

Metabolic Brain Disease

Volumn 19, Issue 3-4, 2004, Pages 229-239

  Ferenci, Peter ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

copper metabolism; genetics; treatment; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 7B; CHELATING AGENT; COPPER; PENICILLAMINE; TRIENTINE; UNCLASSIFIED DRUG; ZINC ACETATE; ZINC SULFATE;

BILE SECRETION; CELL DESTRUCTION; CHROMOSOME 13; CLINICAL FEATURE; CONFERENCE PAPER; COPPER METABOLISM; GENE LOCATION; GENE MUTATION; GOLGI COMPLEX; HUMAN; LIVER CELL; LIVER DISEASE; LIVER METABOLISM; LIVER TRANSPLANTATION; MAINTENANCE THERAPY; MENTAL DISEASE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; OXIDATIVE STRESS; PATHOPHYSIOLOGY; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; BRAIN; CATION TRANSPORT PROTEINS; CHELATING AGENTS; COPPER; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; MUTATION; OXIDATIVE STRESS; ZINC;

EID: 5444271161     PISSN: 08857490     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:MEBR.0000043973.10494.85     Document Type: Conference Paper

References (60)

1. Barnham, K.J., McKinstry, W.J., Multhaup, G., Galatis, D., Morton, C.J., Curtain, C.C., Williamson, N.A., White, A.R., Hinds, M.G., Norton, R.S., Beyreuther, K., Masters, C.L., Parker, M.W., and Cappai, R. (2003). Structure of the Alzheimer's disease amyloid precursor protein copper binding domain. A regulator of neuronal copper homeostasis. J. Biol. Chem. 278:17401-17407.
2. Bax, R.T., Hassler, A., Luck, W., Hefter, H., Krageloh-Mann, P., Neuhaus, P., and Emmrich, P. (1998). Cerebral manifestation of Wilson's disease successfully treated with liver transplantation. Neurology 51:863-865.
3. Berman, D.H., Leventhal, R.I., Gavaler, J.S., Cadoff, E.M., Van Thiel, D.H. (1991). Clinical differentiation of fulminant wilsonian hepatitis from other causes of hepatic failure. Gastroenterology 100:1129-1134.
4. Borjigin, J., Payne, A.S., Deng, J., Li, X., Wang, M.M., Ovodenko, B., and Gitlin, J. (1999). A novel pineal night specific ATPase encoded by the Wilson disease gene. J. Neurosci. 19:1018-1026.
5. Brewer, G.J., Johnson, V., Dick, R.D., Kluin, K.J., Fink, J.K., and Branberg, J.A. (1996). Treatment of Wilson disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy. Arch. Neurol. 53:1017-1025.
6. Bull, P.C., Thomas, G.R., Rommens, J.M., Forbes, J.R., and Cox, D.W. (1993). The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 5:327-337.
7. Caca, K., Ferenci, P., Kuhn, H.J., Polli, C., Willgerodt, H., Kunath, B., Hermann, W., Mossner, J., Berr, F. (2001). High prevalence of the II1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J. Hepatol. 35:575-581.
8. Cauza, E., Maier-Dobersberger, T., and Ferenci, P. (1997). Plasma ceruloplasmin as screening test for Wilson's disease. J. Hepatol 27:358-362.
9. Cox, D.W. (1996). Molecular advances in Wilson disease. Prog. Liver Dis. 10:245-263.
10. Culotta, V.C., and Gitlin, J.D. (2001). Disorders of copper transport. In (C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, eds.), The Molecular and Metabolic Basis of Inherited Disease, McGraw-Hill, New York, pp. 3105-3126.
11. Da Costa, C.M., Baldwin, D., Portmann, B., Lolin, Y., Mowat, A.P., and Mieli-Vergani, G. (1992). Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 15:609-615.
12. Ferenci, P. (1997). Zinc treatment of Wilson's disease. In (J.D. Kruse-Jarres, J. Schölmerich, eds.) Zinc and Diseases of the Digestive Tract, Kluwer Academic publishers, Lancaster, UK, pp. 117-124.
13. Ferenci, P., Polli, C., Smolarek, C., Caca, K., Schmidt, H., Firneisz, G., Kupcova, V., Yurdaydin, C., Szalay, F., Vogel, W., Resuli, B., Czlonkowska, A., Stremmel, W., and Berr, F. (2002). Genotype-phenotype correlations in WD. J. Hepatol. 36(Suppl. 1):158.
14. Ferenci, P., Caca, K., Loudianos, G., Mieli-Vergani, G., Tanner, S., Sternlieb, I., Schilsky, M., Cox, D., and Berr, F. (2003). Diagnosis and phenotypic classification of WD. Liver Int. 23:139-142. Final report of the Proceedings of the Working Party at the 8th International Meeting on WD and Menkes disease, Leipzig/Germany, April 16-18, 2001.
15. Firneisz, G., Lakatos, P.L., Szalay, F., Polli, C., Giant, T.T., and Ferenci, P. (2002). Common mutations of ATP7B in Wilson disease patients from Hungary. Am. J. Med. Genet. 108:23-28.
16. Fleischer, B. (1912). Über einer der "Pseudosclerose" nahestehende bisher unbekannte Krankheit (gekennzeichnet durch Tremor, psychische Störungen, bräunliche Pigmentierung bestimmter Gewebe, insbesondere der Hornhautperipherie, Leberzirrhose). Deutsch Z Nerven Heilkd. 44:179-201.
17. Forbes, J., Hsi, G., and Cox, D. (1999). Role of the copper-binding domain in the copper transporter function of ATP7B, the P-type ATPase defective in Wilson disease. J. Biol. Chem. 274:12408-12413.
18. Grimm, G., Madl, C., Katzenschlager, R., Oder, W., Ferenci, P., and Gangl, A. (1992). Detailed evaluation of brain dysfunction in patients with Wilson's disease. EEG Clin. Neurophysiol. 82:119-124.
19. Grimm, G., Oder, W., Prayer, L., Ferenci, P., and Madl, C. (1990). Prospective follow-up study in Wilson's disease. Lancet 336:963-964.
20. Gu, M., Cooper, J.M., Butler, P., Walker, A.P., Mistry, P.K., Dooley, J.S., and Schapira, A.H. (2000). Oxidative-phosphorylation defects in liver of patients with Wilson's disease. Lancet 356:469-474.
21. Guarino, M., Stracciari, A., D'Alessandro, R., and Pazzaglia, P. (1995). No neurological improvement after liver transplantation for Wilson's disease. Acta Neurol. Scand. 92:405-408.
22. Hamza, I., Schaefer, M., Klomp, L.W., and Gitlin, J.D. (1996). Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc. Natl. Acad. Sci. U.S.A. 96:13363-13368.
23. Hellman, N., and Gitlin, J.D. (2002). Ceruloplasmin metabolism and function. Annu. Rev. Nutr. 22:439-458.
24. Huffman, D.L., and O'Halloran, T.V. (2000). Function, structure, and mechanism of intracellular copper trafficking proteins. Annu. Rev. Biochem. 70:677-701.
25. Kelley, E.J., and Palmiter, R.J. (1996). A murine model of Menkes disease reveals a physiological function of metallothionein. Nat. Genet. 13:219-222.
26. Kim, E.K., Yoo, O.J., Song, K.Y., Yoo, H.W., Choi, S.Y., Cho, S.W., and Hahn, S.H. (1998). Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum. Mutat. 11:275-278.
27. Klomp, A.E., Tops, B.B., Van Denberg, I.E., Berger, R., and Klomp, L.W. (2002). Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1). Biochem. J. 364:497-505.
28. Larin, D., Mekios, C., Das, K., Ross, B., Yang, A.S., and Gilliam, T.C. (1999). Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. J. Biol. Chem. 274:28497-28504.
29. Lee, J., Pena, M.M., Nose, Y., and Thiele, D.J. (2001). Biochemical characterization of the human copper transporter Ctr1. J. Biol. Chem. 277:4380-4387.
30. Loudianos, G., Dessi, V., Lovicu, M., Angius, A., Figus, A., Lilliu, F., De Virgiliis, S., Nurchi, A.M., Deplano, A., Moi, P., Pirastu, M., and Cao, A. (1999). Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect. Hum. Mutat. 14:294-303.
31. Lutsenko, S., and Petris, M.J. (2003). Function and regulation of the mammalian copper-transporting ATPases:Insights from biochemical and cell biological approaches. J. Membr. Biol. 191:1-12.
32. Maier-Dobersberger, T., Mannhalter, C., Rack, S., Granditsch, G., Kaserer, K., Korninger, L., Steindl, P., Gangl, A., and Ferenci, P. (1997). Detection of the His1069Gln mutation in WD by rapid polymerase chain reaction. Ann. Intern. Med. 127:21-26.
33. Maier-Dobersberger, T., Rack, S., Granditsch, G., Korninger, L., Steindl, P., Mannhalter, C., and Ferenci, P. (1995). Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology 109:2015-2018.
34. Mansouri, A., Gaou, I., Fromenty, B., Berson, A., Letteron, P., Degott, C., Erlinger, S., and Pessayre, D. (1997). Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 113:599-605.
35. McCullough, A.J., Fleming, C.R., Thistle, J.L., Baldus, W.P., Ludwig, J., McCall, J.T., and Dickson, E.R. (1983). Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology 84:161-167.
36. Nanji, M.S., Nguyen, V.T., Kawasoe, J.H., Inui, K., Endo, F., Nakajima, T., Anezaki, T., and Cox D.W. (1997). Haplotype and mutation analysis in Japanese patients with Wilson disease. Am. J. Hum. Genet. 60:1423-1426.
37. Oder, W., Grimm, G., Kollegger, H., Ferenci, P., Schneider, B., and Deecke, L. (1991). Neurological and neuropsychiatric spectrum of Wilson's disease. A prospective study in 45 cases. J. Neurol. 238:281-287.
38. Palmiter, R.D. (1998). The elusive function of metallothioneins. Proc. Natl. Acad. Sci. U.S.A. 95:8428-8430.
39. Patel, B.N., Dunn, R.J., Jeong, S.Y., Zhu, Q., Julien, J.P., and David, S. (2002). Ceruloplasmin regulates iron levels in the CNS and prevents free radical injury. J. Neurosci. 22:6578-6586.
40. Payne, A., and Gitlin, J.D. (1998). Functional expression of the Menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases. J. Biol. Chem. 273:3765-3770.
41. Payne, A.S., Kelly, E.J., and Gitlin, J.D. (1998). Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl. Acad. Sci. U.S.A. 95:10854-10859.
42. Rae, T., Schmidt, P., Pufahl, R., Culotta, V.C., and O'Halloran, T.V. (1999). Undetectable intracellular free copper: The requirement of a copper chaperone for superoxide dismutase. Science 284:805-808.
43. Roberts, E.A., and Schilsky, M.L. (2003). AASLD practice guidelines: A practice guideline on Wilson disease. Hepatology 37:1475-1492.
44. Schaefer, M., Hopkins, R., Failla, M., and Gitlin, J.D. (1999). Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. Am. J. Physiol. 276:G639-G646.
45. Scheinberg, I.H., Jaffe, M.E., and Sternlieb, I. (1987). The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease. N. Engl. J. Med. 317:209-213.
46. Schiefermeier, M., Kollegger, H., Madl, C., Polli, C., Oder, W., Kuhn, H., Berr, F., and Ferenci, P. (2000). The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 123:585-590.
47. Scott, J., Gollan, J.L., Samourian, S., and Sherlock, S. (1978). Wilson's disease, presenting as chronic active hepatitis. Gastroenterology 74:645-651.
48. Steindl, P., Ferenci, P., Dienes, H.P., Grimm, G., Pabinger, I., Madl, C., Maier-Dobersberger, T., Herneth, A., Dragosics, B., Meryn, S., Knoflach, P., Granditsch, G., and Gangl, A. (1997). Wilson's disease in patients presenting with liver disease: A diagnostic challenge. Gastroenterology 113:212-218.
49. Sternlieb, I. (1990). Perspectives on Wilson's disease. Hepatology 12:1234-1239.
50. Sternlieb, I., and Scheinberg, I.C.H. (1972). Radiocopper in diagnosing liver disease. Semin. Nucl. Med. 2:176-188.
51. Tanzi, R.E., Petrukhin, K., Chernov, I., Pellequer, J.L., Wasco, W., Ross, B., Romano, D.M., Parano, E., Pavone, L., Brzustowicz, L.M., et al. (1993). The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet. 5:344-350.
52. Thomas, G.R., Forbes, J.R., Roberts, E.A., Walshe, J.M., and Cox, D.W. (1995). The Wilson disease gene: Spectrum of mutations and their consequences. Nat. Genet. 9:210-217.
53. Tsivkovskii, R., Efremov, R.G., and Lutsenko, S. (2003). The role of invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B. J. Biol. Chem. 278:13302-13308.
54. van Wassenaer-van Hall, H.N., van den Heuvel, A.G., Algra, A., Hoogenraad, T.U., and Mali, W.P. (1996). Wilson disease: Findings at MR imaging and CT of the brain with clinical correlation. Radiology 198:531-536.
55. Vidaud, D., Assouline, B., Lecoz, P., Cadranel, J.F., and Chappuis, P. (1996). Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease. Neurology 46:1485-1486.
56. Walker, J.M., Tsivkovskii, R., and Lutsenko, S. (2002). Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity. J. Biol. Chem. 277:27953-27959.
57. Watt, N.T., and Hooper, N.M. (2000). The response of neurones and glial cells to elevated copper. Brain Res. Bull. 55:219-224.
58. Wernimont, A.K., Huffman, D.L., Lamb, A.L., O'Halloran, T.V., and Rosenzweig, A.C. (2000). Structural basis for copper transfer by the metallochaperone for Menkes/Wilson disease proteins. Nat. Struct. Biol. 7:766-771.
59. Wilson, S.A.K. (1912). Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 34:295-507.
60. Yuzbasiyan-Gurkan, V., Grider, A., Nostrant, T., Cousins, R.J., and Brewer, G.J. (1992). Treatment of Wilson's disease with zinc: X. Intestinal metallothionein induction. J. Lab. Clin. Med. 120:380-386.