Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia

Journal of Hepatology

Volumn 47, Issue 6, 2007, Pages 844-850

  Kono, Satoshi ^a   Suzuki, Hitoshi ^a   Oda, Toshiaki ^a   Shirakawa, Kentaro ^a   Takahashi, Yoshitomo ^a   Kitagawa, Masatoshi ^a   Miyajima, Hiroaki ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Aceruloplasminemia; Ceruloplasmin; Trafficking; Truncation mutation

Indexed keywords

CELL PROTEIN; CERULOPLASMIN; CYSTEINE; ENDOPLASMIC RETICULUM STRESS PROTEIN; GLUCOSE REGULATED PROTEIN 78; UNCLASSIFIED DRUG;

ACERULOPLASMINEMIA; ANIMAL CELL; ARTICLE; CELL CULTURE; CELL DEATH; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; GENE LOCATION; GENE MUTATION; IRON OVERLOAD; MUTAGENESIS; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; UPREGULATION;

ANIMALS; CELL DEATH; CERULOPLASMIN; CHO CELLS; CODON, NONSENSE; CRICETINAE; CRICETULUS; CYSTEINE; ENDOPLASMIC RETICULUM; HUMANS; IRON OVERLOAD; MUTAGENESIS, SITE-DIRECTED; PROTEIN TRANSPORT; TRANSFECTION;

EID: 35748963527     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2007.05.013     Document Type: Article

References (34)

1. Hellman N.E., and Gitlin J.D. Ceruloplasmin metabolism and function. Annu Rev Nutr 22 (2002) 439-458
2. Bartnikas T.B., and Gitlin J.D. How to make a metalloprotein. Nat Struct Biol 8 (2001) 733-734
3. Gitlin J.D. Wilson disease. Gastroenterology 125 (2003) 1868-1877
4. Klomp L.W., and Gitlin J.D. Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum Mol Genet 5 (1996) 1989-1996
5. Patel B.N., and David S. A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes. J Biol Chem 272 (1997) 20185-20190
6. Patel B.N., Dunn R.J., and David S. Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. J Biol Chem 275 (2000) 4305-4310
7. Jeong S.Y., and David S. Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system. J Biol Chem 278 (2003) 27144-27148
8. Kono S., Miyajima H., and Gitlin J.D. Brain iron disorders. In: Beal M.F., Lang A.E., and Ludolph A.C. (Eds). Neurodegenerative diseases (2005), Cambridge University Press 880-889
9. Miyajima H., Takahashi Y., and Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 16 (2003) 205-213
10. Hellman N.E., Schaefer M., Gehrke S., Stegen P., Hoffman W.J., Gitlin J.D., et al. Hepatic iron overload in aceruloplasminaemia. Gut 47 (2000) 858-860
11. Bosio S., De Gobbi M., Roetto A., Zecchina G., Leonardo E., Rizzetto M., et al. Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Blood 100 (2002) 2246-2248
12. Perez-Aguilar F., Burguera J.A., Benlloch S., Berenguer M., and Rayon J.M. Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. J Hepatol 42 (2005) 947-949
13. Kono S., Suzuki H., Takahashi K., Takahashi Y., Shirakawa K., Murakawa Y., et al. Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. Gastroenterology 131 (2006) 240-245
14. Laine F., Ropert M., Lan C.L., Loreal O., Bellissant E., Jard C., et al. Serum ceruloplasmin and ferroxidase activity are decreased in HFE C282Y homozygote male iron-overloaded patients. J Hepatol 36 (2002) 60-65
15. Cairo G., Conte D., Bianchi L., Fraquelli M., and Recalcati S. Reduced serum ceruloplasmin levels in hereditary haemochromatosis. Br J Haematol 114 (2001) 226-229
16. Gouya L., Muzeau F., Robreau A.M., Letteron P., Couchi E., Lyoumi S., et al. Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology 132 (2007) 679-686
17. Bacon B.R. Hemochromatosis: diagnosis and management. Gastroenterology 120 (2001) 718-725
18. Takahashi Y., Miyajima H., Shirabe S., Nagataki S., Suenaga A., and Gitlin J.D. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 5 (1996) 81-84
19. Loreal O., Turlin B., Pigeon C., Moisan A., Ropert M., Morice P., et al. Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol 36 (2002) 851-856
20. Takeuchi Y., Yoshikawa M., Tsujino T., Kohno S., Tsukamoto N., Shiroi A., et al. A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. J Neurol Neurosurg Psychiatry 72 (2002) 543-545
21. Hellman N.E., Kono S., Miyajima H., and Gitlin J.D. Biochemical analysis of a missense mutation in aceruloplasminemia. J Biol Chem 277 (2002) 1375-1380
22. Sato M., and Gitlin J.D. Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin. J Biol Chem 266 (1991) 5128-5134
23. Kono S., Suzuki H., Oda T., Miyajima H., Takahashi Y., Shirakawa K., et al. Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. Neuromolecular Med 8 (2006) 361-374
24. Yoshida H., Okada T., Haze K., Yanagi H., Yura T., Negishi M., et al. ATF6 activated by proteolysis binds in the presence of NF-Y (CBF) directly to the cis-acting element responsible for the mammalian unfolded protein response. Mol Cell Biol 20 (2000) 6755-6767
25. Takahashi N., Ortel T.L., and Putnam F.W. Single-chain structure of human ceruloplasmin: the complete amino acid sequence of the whole molecule. Proc Natl Acad Sci USA 81 (1984) 390-394
26. Nadanaka S., Yoshida H., Kano F., Murata M., and Mori K. Activation of mammalian unfolded protein response is compatible with the quality control system operating in the endoplasmic reticulum. Mol Biol Cell 15 (2004) 2537-2548
27. Shen J., Snapp E.L., Lippincott-Schwartz J., and Prywes R. Stable binding of ATF6 to BiP in the endoplasmic reticulum stress response. Mol Cell Biol 25 (2005) 921-932
28. Yoshida K., Kaneko K., Miyajima H., Tokuda T., Nakamura A., Kato M., et al. Increased lipid peroxidation in the brains of aceruloplasminemia patients. J Neurol Sci 175 (2000) 91-95
29. Kohno S., Miyajima H., Takahashi Y., Suzuki H., and Hishida A. Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. J Neurol Sci 182 (2000) 57-60
30. Miyajima H., Kono S., Takahashi Y., and Sugimoto M. Increased lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains. Blood Cells Mol Dis 29 (2002) 433-438
31. Miyajima H., Kono S., Takahashi Y., Sugimoto M., Sakamoto M., and Sakai N. Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology 57 (2001) 2205-2210
32. Owen M.C., Brennan S.O., Lewis J.H., and Carrell R.W. Mutation of antitrypsin to antithrombin. α1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med 309 (1983) 694-698
33. Cohn J.A., Friedman K.J., Noone P.G., Knowles M.R., Silverman L.M., and Jowell P.S. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 339 (1998) 653-658
34. Sharer N., Schwarz M., Malone G., Howarth A., Painter J., Super M., et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 339 (1998) 645-652