Genetic background of Japanese patients with adult-onset storage diseases in the liver

Hepatology Research

Volumn 37, Issue 10, 2007, Pages 777-783

  Hayashi, Hisao ^a,e   Wakusawa, Shinya ^b   Yano, Motoyoshi ^c   Okada, Toshihide ^d  

^a Asanogawa General Hospital   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c Yokkaichi City Hospital   (Japan)

^d KANAZAWA UNIVERSITY   (Japan)

^e AICHI GAKUIN UNIVERSITY   (Japan)

Author keywords

Copper; Dubin Johnson syndrome; Hemochromatosis; Iron; Lysosomes; Wilson disease

Indexed keywords

CARRIER PROTEIN; CERULOPLASMIN; COPPER; HEMOJUVELIN; HFE PROTEIN; IRON COMPLEX; LIPOFUSCIN; PROTEIN MURR1; TRANSFERRIN RECEPTOR 2; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

CLINICAL FEATURE; DUBIN JOHNSON SYNDROME; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTOXICATION; IRON OVERLOAD; JAPANESE; LIVER DISEASE; LYSOSOME STORAGE DISEASE; METABOLIC DISORDER; MOLECULAR CLONING; MUTANT; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; WILSON DISEASE;

EID: 34548191340     PISSN: 13866346     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1872-034X.2007.00114.x     Document Type: Review

References (60)

1. de Duve C, Pressman BC, Gianetto R, Wattiaux R, Appelmans F. Tissue fractionation studies. Intracellular distribution pattern of enzymes in rat liver tissue. Biochem J 1955; 60: 604-17.
2. Novikoff AB, Beaufay H, de Duve C. Electron microscopy of lysosome-rich fractions from rat liver. J Biophys Biochem Cytol 1956; 2: 179-91.
3. Glew RH, Basu A, Prence EM, Remaley AT. Lysosomal storage diseases. Lab Invest 1985; 53: 250-69.
4. Iancu TC. The ultrastructural spectrum of lysosomal storage diseases. Ultrastruct Pathol 1992; 16: 231-44.
5. Bou-Gharios G, Abraham D, Olsen I. Lysosomal storage diseases: mechanisms of enzyme replacement therapy. Histochem J 1993; 25: 593-605.
6. Hopkin RJ, Grabowski GA. Lysosomal storage diseases. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, eds. Harrison's Principles of Internal Medicine, 16th edn. New York: McGraw-Hill, 2006; 2315-19.
7. Hayashi H. Ultrastructural study upon hepatocellular lipofuscin and the pigment of Dubin-Johnson syndrome. Gastroenterol Jpn 1970; 5: 193-203.
8. Iancu TC, Deugnier Y, Halliday JW, Powell LW, Brissot P. Ultrastructural sequences during liver iron overload in genetic hemochromatosis. J Hepatol 1997; 27: 628-38.
9. Pietrangelo A. Hereditary hemochromatosis - A new look at an old disease. N Engl J Med 2004; 350: 2383-97.
10. Camaschella C. Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood 2005; 106: 3710-17.
11. Gitlin JD. Wilson disease. Gastroenterology 2003; 125: 1868-77.
12. Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hepatology 2003; 37: 1475-92.
13. Hanaichi T, Kidokoro R, Hayashi H, Sakamoto N. Electron probe X-ray analysis on human hepatocellular lysosomes with copper deposits: Copper binding to a thiol-protein in lysosomes. Lab Invest 1984; 51: 592-7.
14. Jonas L, Fulda G, Salameh T et al. Electron microscopic detection of copper in the liver of two patients with morbus Wilson by EELS and EDX. Ultrastruct Pathol 2001; 25: 111-18.
15. Shiono Y, Wakusawa S, Hayashi H et al. Iron accumulation in the liver of male patients with Wilson's disease. Am J Gastroenterol 2001; 96: 3147-51.
16. Harashima A, Hattori A, Hayashi H et al. Compound load of copper and iron in the livers of pretreatment patients with Wilson's disease. J Trace Elem Exp 2004; 17: 65-73.
17. Motonishi S, Hayashi H, Fujita Y et al. Copper- and iron-rich matrices in hepatocellular lipofuscin particles of a young male patient: diagnostic ultrastructures for Wilson disease. Ultrastruct Pathol 2006; 30: 1-5.
18. Hayashi H, Yano M, Fujita Y, Wakusawa S. Compound overload of copper and iron in patients with Wilson's disease. Med Mol Morph 2006; 39: 121-6.
19. Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in the liver cells: A new clinico-pathological entity with report of twelve cases. Medicine (Baltimore) 1954; 33: 155-72.
20. Mandema E, de Fraiture WH, Nieweg HO, Arends A. Familial chronic idiopathic jaundice (Dubin-Sprinz disease) with a note on bromsulphalein metabolism in this disease. Am J Med 1960; 28: 42-50.
21. Essner E, Novikoff AB. Human hepatocellular pigments and lysosomes. J Ultrastruct Res 1960; 3: 374-91.
22. Hayashi H, Imaizumi Y, Takikawa T, Wakusawa S, Yano M. Electron microscopic findings of the liver of a patient with Dubin-Johnson syndrome complicated by chronic hepatitis C and iron overload. Med Electron Microsc 1999; 32: 204-8.
23. Machida I, Wakusawa S, Sanae F et al. Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. J Gastroenterol 2005; 40: 366-40.
24. Feder JN, Gnirke A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
25. Beutler E, Gelbart T, West C et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22: 187-94.
26. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997; 34: 275-8.
27. Sohda T, Yanai J, Soejima H, Tamura K. Frequencies in the Japanese populations of the HFE gene. Biochem Genet 1999; 37: 63-8.
28. Shiono Y, Ikeda R, Hayashi H et al. C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan. Intern Med 2001; 40: 852-6.
29. Papanikolaou G, Samuels ME, Ludwig EH et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004; 36: 77-82.
30. Roetto A, Papanikolaou G, Politou M et al. Mutant antimicrobial hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 21-2.
31. Camaschella C, Roetto A, Cali A et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 14-15.
32. Kato J, Fujikawa K, Kanda M et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001; 69: 191-7.
33. Njajou OT, Vaessen N, Joosse M et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001; 28: 213-14.
34. Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004; 32: 131-8.
35. Tanzi RE, Petrukhin K, Chernov I et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344-50.
36. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993; 5: 327-37.
37. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993; 197: 271-7.
38. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: Spectrum of mutations and their consequences. Nat Genet 1995; 9: 210-17.
39. Shah AB, Chernov I, Zhang HT et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997; 61: 317-28.
40. Nanji MS, Nguyen VT, Kawasoe JH et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997; 60: 1423-9.
41. Okada T, Shiono Y, Hayashi H et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000; 15: 454-62.
42. Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Genet 2003; 64: 479-84.
43. 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: 165-73.
44. Taniguchi T, Wada M, Kohno K et al. A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation. Cancer Res 1996; 56: 4124-9.
45. Paulusma CC, Kool M, Bosma PJ et al. A mutation in the human canalicular multispecific anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 1997; 25: 1539-42.
46. Koyama C, Wakusawa S, Hayashi H et al. Two novel mutations, L490R and V561X, in the transferrin receptor 2 in Japanese patients with hemochromatosis. Haematologica 2005; 90: 14-19.
47. Koyama C, Hayashi H, Wakusawa S et al. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J Hepatol 2005; 43: 740-2.
48. Hayashi H, Wakusawa S, Motonishi S et al. Genetic background of primary iron overload syndromes in Japan. Intern Med 2006; 45: 1107-11.
49. Machida I, Inagaki Y, Suzuki S, Hayashi H, Wakusawa S. Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. Hepatol Res 2004; 30: 86-90.
50. Muller T, van de Sluis B, Zhernakova A et al. The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. J Hepatol 2003; 38: 164-8.
51. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 2004; 82: 629-34.
52. Wakusawa S, Machida I, Suzuki S, Hayashi H, Yano M, Yoshioka K. Identification of a novel 2026G>C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. J Hum Genet 2003; 48: 425-9.
53. Sohda T, Okubo R, Kamimura S, Ohkawara T. Hemochromatosis with HFE gene mutation in a Japanese patient. Am J Gastroenterol 2001; 96: 2487-8.
54. Hattori A, Wakusawa S, Hayashi H et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003; 26: 154-6.
55. Suzuki M, Gitlin JD. Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport. Pediatr Intr 1999; 41: 436-42.
56. Harada M, Sakisaka S, Terada K et al. Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes. Gastroenterology 2000; 118: 921-8.
57. Klomp AE, van de Sluis B, Klomp LW, Wijmenga C. The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J Hepatol 2003; 39: 703-9.
58. Wada M, Toh S, Taniguchi K et al. Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia ll/Dubin-Johnson syndrome. Hum Mol Genet 1998; 7: 203-7.
59. Kajihara S, Hisatomi A, Mizuta T et al. A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. Biochem Biophys Res Commun 1998; 253: 454-7.
60. Hulot J, Villard E, Maguy A et al. A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination. Pharmacogenet Genomics 2005; 15: 277-85.