Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease

Hepatology

Volumn 42, Issue 2, 2005, Pages 466-472

  Zoller, Heinz ^a,b,g   McFarlane, Ian ^c   Theurl, Igor ^a   Stadlmann, Sylvia ^d   Nemeth, Elizabeta ^e   Oxley, David ^f   Ganz, Tomas ^e   Halsall, David J ^c   Cox, Timothy M ^b   Vogel, Wolfgang ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d MEDICAL UNIVERSITY OF INNSBRUCK   (Austria)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BABRAHAM INSTITUTE   (United Kingdom)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FERROPORTIN 1; HEPCIDIN;

AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHRONIC LIVER DISEASE; CLINICAL FEATURE; DISEASE COURSE; FERROPORTIN DISEASE; GENE DELETION; HEMOCHROMATOSIS; HEMOSIDEROSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON METABOLISM; IRON OVERLOAD; KUPFFER CELL; MACROPHAGE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; ADULT; AGED; ANTIMICROBIAL CATIONIC PEPTIDES; CATION TRANSPORT PROTEINS; FERRITINS; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; LIVER; MALE; MIDDLE AGED; MUTATION; PROTEIN PRECURSORS;

EID: 23044463685     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.20775     Document Type: Article

References (43)

1. Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-214.
2. Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-623.
3. Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, et al. A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4. Blood 2002;100:733-734.
4. Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-694.
5. Arden KE, Wallace DF, Dixon JL, Summerville L, Searle JW, Anderson GJ, et al. A novel mutation in ferroportinl is associated with haemochromatosis in a Solomon Islands patient. Gut 2003;52:1215-1217.
6. Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003;39:286-289.
7. 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 3 new ferroportin (slc11A3) mutations. Blood 2003;102:1904-1910.
8. Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, 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.
9. Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341:725-732.
10. Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, 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.
11. Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, 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.
12. Schimanski LM, Drakesmith H, Merryweather-Clarke AT, Viprakasit V, Edwards JP, Sweetland E, et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 2005;105:4096-4102.
13. McKie AT, Barlow DJ. The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1). Pflugers Arch 2004;447:801-806.
14. Fleming RE, Sly WS. Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding. J Clin Invest 2001; 108:521-522.
15. Weiss G. Pathogenesis and treatment of anaemia of chronic disease. Blood Rev 2002;16:87-96.
16. Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, 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.
17. Kulaksiz H, Theilig F, Bachmann S, Gehrke SG, Rost D, Janetzko A, et al. The iron-regulatory peptide hormone hepcidin: expression and cellular localization in the mammalian kidney. J Endocrinol 2005;184:361-370.
18. Rivera S, Liu L, Nemeth E, Gabayan V, Sorensen OE, Ganz T. Hepcidin excess induces the sequestration of iron and exacerbates tumor-associated anemia. Blood 2004;105:1797-1802.
19. Nemeth E, Valore EV, Territo M, Schiller G, Lichtenstein A, Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003;101:2461-2463.
20. Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306:2090-2093.
21. Ganz T. Hepcidin in iron metabolism. Curr Opin Hematol 2004;11:251-254.
22. Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood 2004;103:2407-2409.
23. Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-22.
24. Matthes T, Aguilar-Martinez P, Pizzi-Bosman L, Darbellay R, Rubbia-Brandt L, Giostra E, et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene. Blood 2004;104:2181-2183.
25. Delatycki MB, Allen KJ, Gow P, MacFarlane J, Radomski C, Thompson J, et al. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Clin Genet 2004;65:378-383.
26. Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001;98:8780-8785.
27. Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003;361: 669-673.
28. Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004;36:77-82.
29. Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Hepcidin is decreased in TFR2 hemochromatosis. Blood 2005;105:1803-1806.
30. de Kok JB, Wiegerinck ET, Giesendorf BA, Swinkels DW. Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes). Hum Mutat 2002;19:554-559.
31. Kulaksiz H, Gehrke SG, Janetzko A, Rost D, Bruckner T, Kallinowski B, et al. Pro-hepcidin: expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia. Gut 2004;53:735-743.
32. Perls M. Nachweis von Eisenoxyd in gewissen Pigmentationen. Virchows Archive für pathologische Anatomie und für Klinische Medizin 1867;39:42.
33. Stevens A. Pigments and minerals. In: Bancroft JD, Stevens A, eds. Theory and Practice of Histological Techniques. 2nd ed. Edinburgh, London, Melbourne, New York: Churchill Livingstone, 1982:242-266.
34. Papanikolaou G, Tzilianos M, Christakis JI, Bogdanos D, Tsimirika K, Macfarlane J, et al. Hepcidin in iron overload disorders. Blood 2005;105: 4103-4105.
35. Pietrangelo A. Hereditary hemochromatosis: a new look at an old disease. N Engl J Med 2004;350:2383-2397.
36. Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003;12: 2241-2247.
37. Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosomal dominant iron overload due to a novel mutation of ferroportin 1 associated with parenchymal iron loading and cirrhosis. J Hepatol 2004;40:710-713.
38. Njajou OT, de Jong G, Berghuis B, Vaessen N, Snijders PJ, Goossens JP, et al. Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis 2002;29:439-443.
39. Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004;32:131-138.
40. Finch C. Regulators of iron balance in humans. Blood 1994;84:1697-1702.
41. Nicolas G, Andrews NC, Kahn A, Vaulont S. Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice. Blood 2004;103:2841-2843.
42. Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood 2002;100: 3776-3781.
43. Drakesmith H, Schimanski LM, Ormerod E, Merryweather-Clarke AT, Viprakasit V, Edwards JP, et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005 Apr 14; [Epub ahead of print].