Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms

Journal of Inherited Metabolic Disease

Volumn 35, Issue 3, 2012, Pages 541-548

  Bruha, Radan ^a,c   Vitek, Libor ^a   Marecek, Zdenek ^a   Pospisilova, Lenka ^a   Nevsimalova, Sona ^a   Martasek, Pavel ^a   Petrtyl, Jaromir ^a   Urbanek, Petr ^a   Jiraskova, Alena ^a   Malikova, Ivana ^a   Haluzik, Martin ^a   Ferenci, Peter ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; COPPER; DNA; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 2; INTERLEUKIN 6; TUMOR NECROSIS FACTOR ALPHA; WILSON DISEASE PROTEIN; ZINC;

ADOLESCENT; ADULT; ARTICLE; ATP7B GENE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HEMATOLOGICAL PARAMETERS; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SERUM ANTIOXIDANT CAPACITY; URINE LEVEL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; ANTIOXIDANTS; CATION TRANSPORT PROTEINS; COPPER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEPATOLENTICULAR DEGENERATION; HUMANS; INTERLEUKIN-10; INTERLEUKIN-1BETA; INTERLEUKIN-6; MALE; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; OXIDATIVE STRESS;

EID: 84863328264     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9422-5     Document Type: Article

References (43)

1. Angulo P (2002) Nonalcoholic fatty liver disease. N Engl J Med 346:1221-1231
2. Borjigin J, Payne AS, Deng J et al. (1999) A novel pineal nightspecific ATPase encoded by the Wilson disease gene. J Neurosci 19:1018-1026 (Pubitemid 29066164)
3. Britton RS (1996) Metal-induced hepatotoxicity. Semin Liver Dis 16:3-12 (Pubitemid 26130097)
4. Bruha R, Marecek Z, Pospisilova L et al. (2011) Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 31:83-91
5. Bull AI, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to Menkes gene. Nat Genet 5:327-337 (Pubitemid 23351302)
6. Evenson MA (1988) Measurement of copper in biological samples by flame or electrothermal atomic absorption spectrometry. Method Enzymol 158:351-357
7. Ferenci P (2005) Wilson's disease. Clin Gastroenterol Hepatol 3:726-733 (Pubitemid 41116723)
8. Ferenci P, Caca K, Loudianos G et al. (2003) Diagnosis and phenotypic classification of Wilson disease. Liver Int 23:139-142 (Pubitemid 37265785)
9. Ferns GA, Lamb DJ, Taylor A (1997) The possible role of copper ions in atherogenesis: the Blue Janus. Atherosclerosis 135:139-152 (Pubitemid 27373491)
10. Fryer MJ (2009) Potential of vitamin E as an antioxidant adjunct in Wilson's disease. Med Hypotheses 73:1029-1030
11. Gu M, Cooper JM, Butler P et al. (2000) Oxidative-phosphorylation defects in liver of patients with Wilson's disease. Lancet 356:469-474 (Pubitemid 30496819)
12. Iuliano L, Piccheri C, Coppola I, Praticò D, Micheletta F, Violi F (2000) Fluorescence quenching of dipyridamole associated to peroxyl radical scavenging: a versatile probe to measure the chain breaking antioxidant activity of biomolecules. Biochim Biophys Acta 1474:177-182 (Pubitemid 30162983)
13. Jimenez I, Aracena P, Letelier ME, Navarro P, Speisky H (2002) Chronic exposure to HepG2 cells to excess copper results in depletion of glutathione and induction of metallothionein. Toxicol In Vitro 16:167-175 (Pubitemid 34178425)
14. Maier-Dobersberger T, Ferenci P, Polli C et al. (1997) Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med 127:21-26 (Pubitemid 27283899)
15. Merle U, Schaefer M, Ferenci P, Stremmel W (2007) Clinical presentation, diagnosis and long-term outcome of Wilsońs disease: a cohort study. Gut 56:115-120 (Pubitemid 46044897)
16. Nagasaka H, Inoue I, Inui A et al. (2006) Relationship between oxidative stress and antioxidant systems in the liver of patients with Wilson disease: hepatic manifestation inWilson disease as a consequence of augmented oxidative stress. Pediatr Res 60:472-477 (Pubitemid 44427603)
17. Nagasaka H, Takayanagi M, Tsukahara H (2009) Children's toxicology from bench to bed - Liver Injury (3): Oxidative stress and antioxidant systems in liver of patients with Wilson disease. J Toxicol Sci 34:229-236
18. Nevsimalova S, Buskova J, Bruha R et al. (2011) Sleep disorders in Wilson's disease. Eur J Neurol 18:184-190
19. Nicastro E, Loudianos G, Zancan L et al. (2009) Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol 50:555-561
20. Ogihara H, Ogihara T, Miki M, Yasuda H, Mino M (1995) Plasma copper and antioxidant status in Wilson's disease. Pediatr Res 37:219-226
21. Ojeda CB, Rojas FS, Pavon JMC (1995) Recent developments in derivative ultraviolet/visible absorption spectrophotometery. Talanta 42:1195-1214
22. Roberts EA, Schilsky ML (2008) Diagnosis and treatment of Wilson disease: An update. Hepatology 47:2089-2111 (Pubitemid 351945575)
23. Rodo M, Czlonkowska A, Pulawska M, Swiderska M, Tarnacka B, Wehr H (2000) The level of serum lipids, vitamin E and low density lipoprotein oxidation in Wilson's disease patients. Eur J Neurol 7:491-494 (Pubitemid 32530108)
24. Scheinberg IH (1981) Wilson's disease. J Rheumatol Suppl 7:90-93 (Pubitemid 11108128)
25. Schiefermeier M, Kollegger H, Madl C et al. (2000) The impact of apolipoprotein E genotypes on age at onset of symptom and phenotypic expression in Wilson's disease. Brain 123:585-590 (Pubitemid 30099542)
26. Sies H (1993) Strategies of antioxidant defense. Eur J Biochem 215:213-219 (Pubitemid 23224303)
27. Simon I, Schaefer M, Reichert J, Stremmel W (2008) Analysis of the human Atox 1 homologue inWilson patients.World J Gastroenterol 14:2383-2387 (Pubitemid 351877610)
28. Sinha S, Christopher R, Arunodaya GR et al. (2005) Is low serum tocopherol in Wilson's disease a significant symptom? J Neurol Sci 228:121-123 (Pubitemid 40202955)
29. Sokol RJ, Twedt D, McKim JM et al. (1994) Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 107:1788-1798 (Pubitemid 24357635)
30. Sokol RJ, McKim JM Jr, Devereaux MW (1996) Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes. Ped Res 39:259-263 (Pubitemid 26045060)
31. Spisni E, Valerii MC, Manerba M et al. (2009) Effect of copper on extracellular levels of key pro-inflammatory molecules in hypothalamic GN11 and primary neurons. Neurotoxicology 30:605-612
32. Stapelbroek JM, Bollen CW, Ploos van Amstel JK et al. (2004) The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a metaanalysis. J Hepatol 41:758-763 (Pubitemid 39434305)
33. Sternlieb I, Scheinberg IH (1968) Prevention of Wilson's disease in asymptomatic patients. N Engl J Med 278:352-359
34. Tanzi RE, Petrukhin K, Chernov I et al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350 (Pubitemid 23351304)
35. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene spectrum of mutations and their consequences. Nat Genet 9:210-217
36. Videla LA, Fernandez V, Tapia G, Varela P (2003) Oxidative stressmediated hepatotoxicity of iron and copper: Role of Kupfer cells. Biometals 16:103-111 (Pubitemid 36140221)
37. von Herbay A, de Groot H, Hegi U, Stremmel W, Strohmeyer G, Sies H (1994) Low vitamin E content in plasma of patients with alcoholic liver disease, hemochromatosis and Wilson's disease. J Hepatol 20:41-6 (Pubitemid 24043084)
38. Vrabelova S, Letocha O, Borsky M, Kozak L (2005) Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 86:277-285 (Pubitemid 41412185)
39. Walter U, Krolikowski K, Tarnacka B, Benecke R, Czlonkowska A, Dressler D (2005) Sonographic detection of basal ganglia lesions in aswymptomatic and symptomatic Wilson disease. Neurology 64:1726-1732 (Pubitemid 40695806)
40. Weiss KH, Lozoya JC, Tuma S et al. (2008) Copper-induced translocation of the Wilson disease protein ATP7B independent of Murr1/COMMD1 and Rab7. Am J Pathol 173:1783-1794
41. Weiss KH, Runz H, Noe B et al. (2010) Genetic analysis of BIRC4/ XIAP as a putative modifier gene of Wilson disease. J Inherit Met Dis doi:10.1007/s10545-010-9123-5
42. Wright LM, Huster D, Lutsenko S, Wrba F, Ferenci P, Fimmel CJ (2009) Hepatocyte GP73 expression in Wilson disease. J Hepatol 51:557-564
43. Zischka H, Lichtmannegger J, Schmitt S et al. (2011) Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson dinase. J Clin Invest 121:1508-1518