Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

Hepatology

Volumn 50, Issue 6, 2009, Pages 1783-1795

  Van Den Berghe, Peter V E ^a   Stapelbroek, Janneke M ^a   Krieger, Elmar ^b   De Bie, Prim ^a,c   Van De Graaf, Stan F J ^a   De Groot, Reinoud E A ^a   Van Beurden, Ellen ^a   Spijker, Ellen ^a   Houwen, Roderick H J ^a   Berger, Ruud ^a   Klomp, Leo W J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; CHAPERONE; COPPER; CURCUMIN; MESSENGER RNA; WILSON DISEASE PROTEIN;

ARTICLE; CELL STRAIN HEK293; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; DRUG ACTIVITY; ENDOPLASMIC RETICULUM; FLUORESCENCE MICROSCOPY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MISSENSE MUTATION; MUTANT; PATHOGENESIS; PRECIPITATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TEMPERATURE; WESTERN BLOTTING; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CELL LINE, TUMOR; COPPER; CURCUMIN; HEPATOLENTICULAR DEGENERATION; HUMANS; MOLECULAR CHAPERONES; MUTATION; PHENYLBUTYRATES; PROTEIN CONFORMATION; PROTEIN FOLDING;

EID: 73149122801     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.23209     Document Type: Article

References (42)

1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408.
2. Kenny S, Cox DW. Wilson disease database. http://www.wilsondisease. med.ualberta.ca/database.asp. Accessed August 6, 2009.
3. Walshe JM. Wilson's disease: new oral therapy. Lancet 1956;270:25-26.
4. Brewer GJ, Dick RD, Johnson V, Wang Y, Yuzbasiyan-Gurkan V, Kluin K, et al. Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients. Arch Neurol 1994;51:545-554.
5. Brewer GJ, Dick RD, Yuzbasiyan-Gurkin V, Tankanow R, Young AB, Kluin KJ. Initial therapy of patients with Wilson's disease with tetrathiomolybdate. Arch Neurol 1991;48:42-47.
6. Hill VA, Seymour CA, Mortimer PS. Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease. Br J Dermatol 2000; 142:560-561.
7. Medici V, Rossaro L, Sturniolo GC. Wilson disease: a practical approach to diagnosis, treatment and follow-up. Dig Liver Dis 2007;39:601-609.
8. Brewer GJ, Terry CA, Aisen AM, Hill GM. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987;44:490-493.
9. Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006;63:521-527.
10. Hoogenraad TU. Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice. Brain Dev 2006;28:141-146.
11. Brewer GJ, Yuzbasiyan-Gurkan V, Johnson V. Treatment of Wilson's disease with zinc. IX: Response of serum lipids. J Lab Clin Med 1991;118:466-470.
12. Medici V, Trevisan CP, D'Inca R, Barollo M, Zancan L, Fagiuoli S, et al. Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol 2006;40:936-941.
13. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. HEPATOLOGY 2008;47:2089-2111.
14. Yamaguchi Y, Heiny ME, Suzuki M, Gitlin JD. Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci U S A 1996;93:14030-14035.
15. Hardman B, Michalczyk A, Greenough M, Camakaris J, Mercer J, Ackland L. Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. Cell Physiol Biochem 2007;20:1073-1084.
16. Kuo YM, Gitschier J, Packman S. Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet 1997;6:1043-1049.
17. Michalczyk A, Bastow E, Greenough M, Camakaris J, Freestone D, Taylor P, et al. ATP7B expression in human breast epithelial cells is mediated by lactational hormones. J Histochem Cytochem 2008;56:389-399.
18. Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR, 3rd, Segatori L, et al. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008;134:769-781.
19. Lim M, McKenzie K, Floyd AD, Kwon E, Zeitlin PL. Modulation of deltaF508 cystic fibrosis transmembrane regulator trafficking and function with 4-phenylbutyrate and flavonoids. Am J Respir Cell Mol Biol 2004;31:351-357.
20. Singh OV, Pollard HB, Zeitlin PL. Chemical rescue of deltaF508-CFTR mimics genetic repair in cystic fibrosis bronchial epithelial cells. Mol Cell Proteomics 2008;7:1099-1110.
21. Wang X, Koulov AV, Kellner WA, Riordan JR, Balch WE. Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking. Traffic 2008;9:1878-1893.
22. de Bie P, van de Sluis B, Burstein E, van de Berghe PV, Muller P, Berger R, et al. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 2007;133:1316-1326.
23. van den Berghe PV, Folmer DE, Malingré HE, van Beurden E, Klomp AE, van de Sluis B, et al. Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake. Biochem J 2007;407:49-59.
24. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002;3:RESEARCH0034.
25. Barnes N, Bartee MY, Braiterman L, Gupta A, Ustiyan V, Zuzel V, et al. Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage. Traffic 2009;10:767-779.
26. Hamza I, Schaefer M, Klomp LW, Gitlin JD. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci U S A 1999;96:13363-13368.
27. de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007;44:673-688.
28. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003;278:41593-41596.
29. van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 2002;11:165-173.
30. Maine GN, Burstein E.COMMDproteins: COMMing to the scene. Cell Mol Life Sci 2007;64:1997-2005.
31. Choo-Kang LR, Zeitlin PL. Induction of HSP70 promotes DeltaF508 CFTR trafficking. Am J Physiol Lung Cell Mol Physiol 2001;281:58-68.
32. Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glockner-Pagel J, et al. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 2004;304:600-602.
33. Morgan CT, Tsivkovskii R, Kosinsky YA, Efremov RG, Lutsenko S. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J Biol Chem 2004;279:36363-36371.
34. Rodriguez-Granillo A, Sedlak E, Wittung-Stafshede P. Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation. J Mol Biol 2008;383:1097-1111.
35. Kumar S, Thapa B, Kaur G, Prasad R. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol Cell Biochem 2007;294:1-10.
36. Hayashi H, Sugiyama Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. HEPATOLOGY 2007;45:1506-1516.
37. Rubenstein RC, Zeitlin PL. A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 1998;157:484-490.
38. Brusilow SW. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 1991;29:147-150.
39. Maestri NE, Hauser ER, Bartholomew D, Brusilow SW. Prospective treatment of urea cycle disorders. J Pediatr 1991;119:923-928.
40. Garcia-Alloza M, Borrelli LA, Rozkalne A, Hyman BT, Bacskai BJ. Curcumin labels amyloid pathology in vivo, disrupts existing plaques, and partially restores distorted neurites in an Alzheimer mouse model. J Neurochem 2007;102:1095-1104.
41. Gondcaille C, Depreter M, Fourcade S, Lecca MR, Leclercq S, Martin PG, et al. Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator. J Cell Biol 2005;169:93-104.
42. Teckman JH. Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study. J Pediatr Gastroenterol Nutr 2004;39:34-37.