Non-HFE hemochromatosis

Seminars in Liver Disease

Volumn 25, Issue 4, 2005, Pages 450-460

  Pietrangelo, Antonello ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Hemochromatosis; Hemojuvelin; Hepcidin; Tansferrin receptor 2

Indexed keywords

FERROPORTIN 1; GENE PRODUCT; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; IRON; LIVER PROTEIN; TRANSFERRIN RECEPTOR; TRANSFERRIN RECEPTOR 2;

AUTOSOMAL DOMINANT DISORDER; BIOACCUMULATION; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; GENE FUNCTION; GENE MUTATION; HEMOCHROMATOSIS; HISTOPATHOLOGY; HOMEOSTASIS; HUMAN; IRON KINETICS; IRON OVERLOAD; IRON TRANSPORT; NONHUMAN; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RETICULOENDOTHELIAL CELL; RETICULOENDOTHELIAL SYSTEM; REVIEW;

ANTIMICROBIAL CATIONIC PEPTIDES; CATION TRANSPORT PROTEINS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; RECEPTORS, TRANSFERRIN;

EID: 28444436913     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-923316     Document Type: Review

References (92)

1. 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
2. Piperno A, Sampietro M, Pietrangelo A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998;114:996-1002
3. Borot N, Roth M, Malfroy L, et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997;45:320-324
4. Pietrangelo A. Hemochromatosis 1998: is one gene enough? J Hepatol 1998;29:502-509
5. Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 2004;350:2383-2397
6. Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004;32:131-138
7. Harris ZL, Takahashi Y, Miyajima H, et al. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci USA 1995;92:2539-2543
8. Hayashi A, Wada Y, Suzuki T, Shimizu A. Studies on familial hypotransferrinemia-unique clinical course and molecular pathology. Am J Hum Genet 1993;53:201-213
9. 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
10. Kawabata H, Yang R, Hirama T, et al. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem 1999;274:20826-20832
11. Roetto A, Totaro A, Piperno A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-2560
12. Mattman A, Huntsman D, Lockitch G, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002;100:1075-1077
13. 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;26:154-156
14. Le Gac G, Mons F, Jacolot S, Scotet V, Ferec C, Frebourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 2004;125:674-678
15. Kawabata H, Nakamaki T, Ikonomi P, et al. Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. Blood 2001;98:2714-2719
16. Cairo G, Pietrangelo A. Iron regulatory proteins in pathobiology. Biochem J 2000;352(Pt 2):241-250
17. Kawabata H, Germain RS, Vuong PT, et al. Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo. J Biol Chem 2000;275:16618-16625
18. Trinder D, Baker E. Transferrin receptor 2: a new molecule in iron metabolism. Int J Biochem Cell Biol 2003;35:292-296
19. West AP Jr, Bennett MJ, Sellers VM, Andrews NC, Enns CA, Bjorkman PJ. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. J Biol Chem 2000;275:38135-38138
20. Richardson DR, Baker E. Two saturable mechanisms of iron uptake from transferrin in human melanoma cells: the effect of transferrin concentration, chelators, and metabolic probes on transferrin and iron uptake. J Cell Physiol 1994;161:160-168
21. Lamon JM, Marynick SP, Roseblatt R, Donnelly S. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology 1979;76:178-183
22. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-22
23. Krause A, Neitz S, Magert HJ, et al. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEES Lett 2000;480:147-150
24. Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-7810
25. Pigeon C, Ilyin G, Courselaud B, et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001;276:7811-7819
26. Nemeth E, Turtle MS, Powelson J, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306:2090-2093
27. Nicolas G, Bennoun M, Devaux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 2001;98:8780-8785
28. Courselaud B, Pigeon C, Inoue Y, et al. C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism. J Biol Chem 2002; 277:41163-41170
29. Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999;64:1388-1393
30. 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
31. Lanzara C, Roetto A, Daraio F, et al. The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004;103:4317-4321
32. Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004;103:4669-4671
33. Gehrke S, Pietrangelo A, Kascak M, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet 2005;67:425-428
34. Girelli D, Bozzini C, Roetto A, 65t al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002;122:1295-1302
35. Cazzola M, Ascari E, Barosi G, et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983;65:149-154
36. Rivard SR, Mura C, Simard H, et al. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cells Mol Dis 2000;26:10-14
37. De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol 2002;117:973-979
38. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003;361:669-673
39. Gehrke SG, Kulaksiz H, Herrmann T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron. Blood 2003;102:371-376
40. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet 2003;34:102-107
41. Nicolas G, Viatte L, Lou DQ, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003;34:97-101
42. Fleming RE, Ahmann JR, Migas MC, et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci USA 2002;99:10653-10658
43. Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Hepcidin is decreased in TFR2-Hemochromatosis. Blood 2005;105:1083-1806
44. Kawabata H, Fleming RE, Gui D, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood 2005;105:376-381
45. Pietrangelo A, Caleffi A, Henrion J, et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 2005;128:470-479
46. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003;12:2241-2247
47. Jacolot S, Le Gac G, Scotet V, et al. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 2004;103:2835-2840
48. Hofmann WK, Tong XJ, Ajioka RS, et al. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood 2002;100:1099-1100
49. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341:725-732
50. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-623
51. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-214
52. Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-697
53. Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-694
54. Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002;100:733-734
55. Cazzola M, Cremonesi L, Papaioannou M, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002;119:539-546
56. Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and three new ferroportin (s1c11A3) mutations. Blood 2003;102:1904-1910
57. Rivard SR, Lanzara C, Grimard D, et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica 2003;88:824-826
58. Jouanolle AM, Douabin-Gicquel V, Halimi C, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003;39:286-289
59. Sham RL, Phatak PD, West C, et al. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 2005;34:157-161
60. Liu W, Shimomura S, Imanishi H, et al. Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern Med 2005;44:285-289
61. Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 2004;40:710-713
62. Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000;403:776-781
63. McKie AT, Marciani P, Rolfs A, et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000;5:299-309
64. Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000;275:19906-19912
65. Zoller H, Koch RO, Theurl I, et al. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology 2001;120:1412-1419
66. Zoller H, Pietrangelo A, Vogel W, Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999;353:2120-2123
67. Yang F, Liu XB, Quinones M, et al. Regulation of reticuloendothelial iron transporter MTP1 (S1c11a3) by inflammation. J Biol Chem 2002;277:39786-39791
68. Yamaji S, Tennant J, Tandy S, et al. Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells. FEBS Lett 2001;507:137-141
69. Yang F, Wang X, Haile DJ, et al. Iron increases expression of iron-export protein MTP1 in lung cells. Am J Physiol Lung Cell Mol Physiol 2002;283:L932-L939
70. Martini LA, Tchack L, Wood RJ. Iron treatment down-regulates DMT1 and IREG1 mRNA expression in Caco-2 cells. J Nutr 2002;132:693-696
71. Lymboussaki A, Pignatti E, Montosi G, et al. The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression. J Hepatol 2003;39:710-715
72. Frazer DM, Wilkins SJ, Becker EM, et al. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. Gastroenterology 2002;123:835-844
73. Schimanski LM, Drakesmith H, Merryweather-Clarke AT, et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 2005;105:4096-4102
74. Drakesmith H, Schimanski LM, Ormerod E, et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005;106:1092-1097
75. Gualdi R, Casalgrandi G, Montosi G, et al. Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis. Gastroenterology 1994;107:1118-1124
76. Jouanolle AM, Douabin-Gicquel V, Halimi C, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003;39:286-289
77. Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-446
78. Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-4053
79. Yoshida K, Furihata K, Takeda S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995;9:267-272
80. Moirand R, Mortaji AM, Loreal O, et al. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997;349:95-97
81. Bothwell TH, Abrahams C, Bradlow BA, Charlton RW. Idiopathic and Bantu hemochromatosis. Arch Pathol 1965;79:163-168
82. Gordeuk V, Mukiibi J, Hasstedt SJ, et al. Iron overload in Africa. Interaction between a gene and dietary iron content. N Engl J Med 1992;326:95-100
83. Moyo VM, Mandishona E, Hasstedt SJ, et al. Evidence of genetic transmission in African iron overload. Blood 1998;91:1076-1082
84. Gordeuk VR, Caleffi A, Corradini E, et al. Iron overload in Africans and African-Americans and a common mutation in the scl40a1 (ferroportin 1) gene. Blood Cells Mol Dis 2003;31:299-304
85. Beutler E, Barton JC, Felitti VJ, et al. Ferroportin (SLC11A3) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 2003;31:305-309
86. Eason RJ, Adams PC, Aston CE, Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust N Z J Med 1990;20:226-230
87. Arden KE, Wallace DF, Dixon JL, et al. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut 2003;52:1215-1217
88. Goode CA, Dinh CT, Linder MC. Mechanism of copper transport and delivery in mammals: review and recent findings. Adv Exp Med Biol 1989;258:131-144
89. Miyajima H, Takahashi Y, Kamata T, et al. Use of desferrioxamine in the treatment of aceruloplasminemia. Ann Neurol 1997;41:404-407
90. 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;69:191-197
91. Cox TM, Halsall DJ. Hemochromatosis-neonatal and young subjects. Blood Cells Mol Dis 2002;29:411-417
92. OMIM. Online Mendelian Inheritance in Man Available at: http://www.ncbi.n1m.nih.gov/omim. Accessed October 13, 2005