Modifying factors and phenotypic diversity in Wilson's disease

Annals of the New York Academy of Sciences

Volumn 1315, Issue 1, 2014, Pages 56-63

  Lutsenko, Svetlana ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

ATP7B; Cholesterol; Copper; Wilson's disease

Indexed keywords

CHOLESTEROL; COPPER; TRANSCRIPTOME; WILSON DISEASE PROTEIN;

ARTICLE; CELLULAR DISTRIBUTION; CHOLESTEROL METABOLISM; CLINICAL FEATURE; DISEASE COURSE; GENETIC POLYMORPHISM; HOMEOSTASIS; HUMAN; LIPID HOMEOSTASIS; LIPID METABOLISM; MONOGENIC DISORDER; NONHUMAN; PHENOTYPIC VARIATION; RISK FACTOR; WILSON DISEASE;

ATP7B; ATP7B-/- MICE; CHOLESTEROL; COPPER; WILSON'S DISEASE;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CATION TRANSPORT PROTEINS; CHOLESTEROL; COPPER; DISEASE MODELS, ANIMAL; HEPATOLENTICULAR DEGENERATION; HUMANS; LIPID METABOLISM; LIVER; MICE; MICE, KNOCKOUT; MUTATION; PHENOTYPE; TRANSCRIPTOME;

EID: 84900014286     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/nyas.12420     Document Type: Article

References (55)

1. Das, S.K. & K. Ray. 2006. Wilson's disease: an update. Nat. Clin. Pract. Neurol. 2: 482-493.
2. Brewer, G.J. & V. Yuzbasiyan-Gurkan. 1992. Wilson disease. Medicine (Baltimore) 71: 139-164.
3. Sharma, S., A. Toppo, B. Rath, et al. 2010. Hemolytic anemia as a presenting feature of Wilson's disease: a case report. Indian J. Hematol. Blood Transfus. 26: 101-102.
4. Zimbrean, P.C. & M.L. Schilsky. 2014. Psychiatric aspects of Wilson disease: a review. Gen. Hosp. Psychiatry 36: 53-62.
5. Rich, A.M. & T.M. Lajoie. 2012. Wilson's disease-treatment of psychiatric manifestations in pregnancy. Psychosomatics 53: 175-177.
6. Arat, N. et al. 2008. P wave dispersion is prolonged in patients with Wilson's disease. World J. Gastroenterol. 14: 1252-1256.
7. Soni, D., G. Shukla, S. Singh, et al. 2009. Cardiovascular and sudomotor autonomic dysfunction in Wilson's disease-limited correlation with clinical severity. Auton. Neurosci. 151: 154-158.
8. Meenakshi-Sundaram, S. et al. 2004. Cardiac involvement in Wilson's disease-an electrocardiographic observation. J. Assoc. Physicians India 52: 294-296.
9. Ghosh, L., M. Shah, S. Pate, et al. 2012. Wilson's disease presenting with hypokalemia, hypoparathyroidism and renal failure. J. Assoc. Physicians India 60: 57-59.
10. Huster, D. et al. 2007. High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease. J. Biol. Chem. 282: 8343-8355.
11. Roberts, E.A., B.H. Robinson & S. Yang. 2008. Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease. Mol. Genet. Metab. 93: 54-65.
12. Lutsenko, S. 2008. Atp7b-/- mice as a model for studies of Wilson's disease. Biochem. Soc. Trans. 36: 1233-1238.
13. Ferenci, P. 2014. Phenotype-genotype correlations in patients with Wilson's disease. Ann. N. Y. Acad. Sci. 1315: 1-15.
14. Czlonkowska, A., G. Gromadzka & G. Chabik. 2009. Monozygotic female twins discordant for phenotype of Wilson's disease. Mov. Disord. 24: 1066-1069.
15. Kegley, K.M. et al. 2010. Fulminant Wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation. Am. J. Transplant. 10: 1325-1329.
16. Saito, A., K. Nakayama & H. Hara. 2007. Mild zinc deficiency and dietary phytic acid accelerates the development of fulminant hepatitis in LEC rats. J. Gastroenterol. Hepatol. 22: 150-157.
17. Yonezawa, K. et al. 2003. Soy protein isolate enhances hepatic copper accumulation and cell damage in LEC rats. J. Nutr. 133: 1250-1254.
18. Kato, J. et al. 1996. Hepatic iron deprivation prevents spontaneous development of fulminant hepatitis and liver cancer in Long-Evans Cinnamon rats. J. Clin. Invest. 98: 923-929.
19. Mukherjee, S. et al. 2014. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. Parkinsonism. Relat. Disord. 20: 75-81.
20. Aggarwal, A. et al. 2013. Wilson disease mutation pattern with genotype-phenotype correlations from western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Ann. Hum. Genet. 77: 299-307.
21. Mihaylova, V. et al. 2012. Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. Neurologist 18: 184-189.
22. Horslen, S. & S.H. Hahn. 2010. Genotype-phenotype correlation in Wilson disease. J. Clin. Gastroenterol. 44: 387-388.
23. Wright, L.M. et al. 2009. Hepatocyte GP73 expression in Wilson disease. J. Hepatol. 51: 557-564.
24. Ferenci, P. 2011. Polymorphism of methylenetetrahydrofolate reductase as disease modifier-a deja-vu in Wilson disease? J. Hepatol. 55: 753-755.
25. Litwin, T., G. Gromadzka & A. Czlonkowska. 2012. Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. Parkinsonism Relat. Disord. 18: 367-369.
26. Kenney, S.M. & D.W. Cox. 2007. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum. Mutat. 28: 1171-1177.
27. Gourdon, P. et al. 2011. Crystal structure of a copper-transporting PIB-type ATPase. Nature 475: 59-64.
28. Gourdon, P., O. Sitsel, J. Lykkegaard Karlsen, et al. 2012. Structural models of the human copper P-type ATPases ATP7A and ATP7B. Biol. Chem. 393: 205-216.
29. Schushan, M., A. Bhattacharjee, N. Ben-Tal & S. Lutsenko. 2012. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. Metallomics 4: 669-678.
30. Rodriguez-Granillo, A., E. Sedlak & P. Wittung-Stafshede. 2008. Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation. J. Mol. Biol. 383: 1097-1111.
31. Dmitriev, O.Y., A. Bhattacharjee, S. Nokhrin, et al. 2011. Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. J. Biol. Chem. 286: 16355-16362.
32. Payne, A.S., E.J. Kelly & J.D. Gitlin. 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.
33. van den Berghe, P.V. et al. 2009. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. Hepatology 50: 1783-1795.
34. Huster, D. et al. 2012. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology 142: 947-956.
35. Rodriguez, B., J. Burguera & M. Berenguer. 2012. Response to different therapeutic approaches in Wilson disease. A long-term follow up study. Ann. Hepatol. 11: 907-914.
36. Shimizu, N. et al. 2010. Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism. Transl. Res. 156: 350-357.
37. Weiss, K.H. et al. 2013. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin. Gastroenterol. Hepatol. 11: 1028-1035 [e1021-1022].
38. Huster, D. et al. 2003. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology 124: 335-345.
39. Gupta, A. et al. 2011. Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein. Proc. Natl. Acad. Sci. U. S. A. 108: 5390-5395.
40. Leone, A., G.N. Pavlakis & D.H. Hamer. 1985. Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell 40: 301-309.
41. Xiao, Z. et al. 2011. Unification of the copper(I) binding affinities of the metallo-chaperones Atx1, Atox1, and related proteins: detection probes and affinity standards. J. Biol. Chem. 286: 11047-11055.
42. Ralle, M. et al. 2010. Wilson disease at a single cell level: intracellular copper trafficking activates compartment-specific responses in hepatocytes. J. Biol. Chem. 285: 30875-30883.
43. Huster, D. et al. 2006. Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice. Am. J. Pathol. 168: 423-434.
44. Burkhead, J.L., M. Ralle, P. Wilmarth, et al. 2011. Elevated copper remodels hepatic RNA processing machinery in the mouse model of Wilson's disease. J. Mol. Biol. 406: 44-58.
45. Wilmarth, P.A. et al. 2012. A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease. Metallomics 4: 660-668.
46. Zischka, H. et al. 2011. Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J. Clin. Invest. 121: 1508-1518.
47. Gray, L.W. et al. 2012. Urinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper load. PLoS One 7: e38327.
48. Peng, F., S. Lutsenko, X. Sun & O. Muzik. 2012. Imaging copper metabolism imbalance in Atp7b (-/-) knockout mouse model of Wilson's disease with PET-CT and orally administered 64CuCl2. Mol. Imaging Biol. 14: 600-607.
49. Seessle, J. et al. 2011. Alterations of lipid metabolism in Wilson disease. Lipids Health Dis. 10: 83.
50. Cacciatore, S. & L. Tenori. 2013. Brain cholesterol homeostasis in Wilson disease. Med. Hypotheses 81: 1127-1129.
51. Medici, V. et al. 2013. Maternal choline modifies fetal liver copper, gene expression, DNA methylation, and neonatal growth in the tx-j mouse model of Wilson disease. Epigenetics 9: 286-296.
52. Santos, E.M. et al. 2010. Identifying health impacts of exposure to copper using transcriptomics and metabolomics in a fish model. Environ. Sci. Technol. 44: 820-826.
53. Aigner, E. et al. 2010. A role for low hepatic copper concentrations in nonalcoholic fatty liver disease. Am. J. Gastroenterol. 105: 1978-1985.
54. Roybal, J.L. et al. 2012. Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson's disease. Gene. Ther. 19: 1085-1094.
55. Burkhead, J.L. & S. Lutsenko. 2013. The role of copper as a modifier of lipid metabolism. In Lipid Metabolism. R.V. Baez, Ed.: 39-61. In Tech. Available online at http://www.intechopen.com/books/lipid-metabolism/the-role-of-copper-as-a-modifier-of-lipid-metabolism.