Duodenal expression of iron transport molecules in patients with hereditary hemochromatosis or iron deficiency

Journal of Cellular and Molecular Medicine

Volumn 16, Issue 8, 2012, Pages 1816-1826

  Dostalikova Cimburova, Marketa ^a   Kratka, Karolina ^a   Balusikova, Kamila ^a   Chmelikova, Jitka ^a   Hejda, Vaclav ^a   Hnanicek, Jan ^a   Neubauerova, Jitka ^a   Vranova, Jana ^a   Kovar, Jan ^a   Horak, Jiri ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Dcytb; DMT1; Ferroportin; Gene expression; Hemochromatosis; Hepcidin; Hephaestin; HFE; Iron deficiency; TFR1

Indexed keywords

ANTIMICROBIAL CATIONIC PEPTIDE; CATION TRANSPORT PROTEIN; HEPCIDIN; IRON; MESSENGER RNA;

ADULT; AGED; ARTICLE; BLOOD; CASE CONTROL STUDY; DUODENUM; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HEMOCHROMATOSIS; HUMAN; MALE; METABOLISM; MIDDLE AGED; PHENOTYPE; TRANSPORT AT THE CELLULAR LEVEL;

ADULT; AGED; AGED, 80 AND OVER; ANTIMICROBIAL CATIONIC PEPTIDES; BIOLOGICAL TRANSPORT; CASE-CONTROL STUDIES; CATION TRANSPORT PROTEINS; DUODENUM; FEMALE; GENE EXPRESSION REGULATION; HEMOCHROMATOSIS; HUMANS; IRON; MALE; MIDDLE AGED; PHENOTYPE; RNA, MESSENGER;

EID: 84864381336     PISSN: 15821838     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1582-4934.2011.01458.x     Document Type: Article

References (42)

1. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, et al Geography of HFE C282Y and H63D mutations. Genet Test. 2000; 4: 183-98.
2. Beutler E, Felitti V, Gelbart T, et al Genetics of iron storage and hemochromatosis. Drug Metab Dispos. 2001; 29: 495-9.
3. 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.
4. Samarasena J, Winsor W, Lush R, et al Individuals homozygous for the H63D mutation have significantly elevated iron indexes. Dig Dis Sci. 2006; 51: 803-7.
5. Donovan A, Roy CN, Andrews NC. The ins and outs of iron homeostasis. Physiology (Bethesda). 2006; 21: 115-23.
6. Feder JN, Penny DM, Irrinki A, et al The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA. 1998; 95: 1472-7.
7. Parkkila S, Waheed A, Britton RS, et al Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA. 1997; 94: 13198-202.
8. Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem. 2006; 281: 28494-8.
9. Gao J, Chen J, Kramer M, et al Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab. 2009; 9: 217-27.
10. Ganz T. Hepcidin in iron metabolism. Curr Opin Hematol. 2004; 11: 251-4.
11. Nicolas G, Chauvet C, Viatte L, et al The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest. 2002; 110: 1037-44.
12. Nemeth E, Tuttle MS, Powelson J, et al Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 2004; 306: 2090-3.
13. Nemeth E, Ganz T. Regulation of iron metabolism by hepcidin. Annu Rev Nutr. 2006; 26: 323-42.
14. Mena NP, Esparza A, Tapia V, et al Hepcidin inhibits apical iron uptake in intestinal cells. Am J Physiol Gastrointest Liver Physiol. 2008; 294: G192-8.
15. Millard KN, Frazer DM, Wilkins SJ, et al Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat. Gut. 2004; 53: 655-60.
16. Gleeson F, Ryan E, Barrett S, et al Duodenal Dcytb and hephaestin mRNA expression are not significantly modulated by variations in body iron homeostasis. Blood Cells Mol Dis. 2005; 35: 303-8.
17. Kelleher T, Ryan E, Barrett S, et al Increased DMT1 but not IREG1 or HFE mRNA following iron depletion therapy in hereditary haemochromatosis. Gut. 2004; 53: 1174-9.
18. Nelson JE, Mugford VR, Kilcourse E, et al Relationship between gene expression of duodenal iron transporters and iron stores in hemochromatosis subjects. Am J Physiol Gastrointest Liver Physiol. 2010; 298: G57-62.
19. Rolfs A, Bonkovsky HL, Kohlroser JG, et al Intestinal expression of genes involved in iron absorption in humans. Am J Physiol Gastrointest Liver Physiol. 2002; 282: G598-607.
20. Stuart KA, Anderson GJ, Frazer DM, et al Duodenal expression of iron transport molecules in untreated haemochromatosis subjects. Gut. 2003; 52: 953-9.
21. 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: 1412-9.
22. Zoller H, Theurl I, Koch RO, et al Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. Gastroenterology. 2003; 125: 746-54.
23. Cimburova M, Putova I, Provaznikova H, et al S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol (Praha). 2005; 51: 172-6.
24. Kovar J, Neubauerova J, Cimburova M, et al Stimulation of non-transferrin iron uptake by iron deprivation in K562 cells. Blood Cells Mol Dis. 2006; 37: 95-9.
25. Truksa J, Kovar J, Valenta T, et al Iron deprivation induces apoptosis independently of p53 in human and murine tumour cells. Cell Prolif. 2003; 36: 199-213.
26. Hubert N, Hentze MW. Previously uncharacterized isoforms of divalent metal transporter (DMT)-1: implications for regulation and cellular function. Proc Natl Acad Sci USA. 2002; 99: 12345-50.
27. King C, Barton DE. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis. BMC Med Genet. 2006; 7: 81.
28. Stuart KA, Anderson GJ, Frazer DM, et al Increased duodenal expression of divalent metal transporter 1 and iron-regulated gene 1 in cirrhosis. Hepatology. 2004; 39: 492-9.
29. Philpott CC. Molecular aspects of iron absorption: insights into the role of HFE in hemochromatosis. Hepatology. 2002; 35: 993-1001.
30. Balusikova K, Neubauerova J, Dostalikova-Cimburova M, et al Differing expression of genes involved in non-transferrin iron transport across plasma membrane in various cell types under iron deficiency and excess. Mol Cell Biochem. 2009; 321: 123-33.
31. Galy B, Ferring-Appel D, Kaden S, et al Iron regulatory proteins are essential for intestinal function and control key iron absorption molecules in the duodenum. Cell Metab. 2008; 7: 79-85.
32. Foot NJ, Dalton HE, Shearwin-Whyatt LM, et al Regulation of the divalent metal ion transporter DMT1 and iron homeostasis by a ubiquitin-dependent mechanism involving Ndfips and WWP2. Blood. 2008; 112: 4268-75.
33. 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: 835-44.
34. 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: 8780-5.
35. 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: 7811-9.
36. 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: 669-73.
37. Kemna EH, Tjalsma H, Podust VN, et al Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications. Clin Chem. 2007; 53: 620-8.
38. Nemeth E, Roetto A, Garozzo G, et al Hepcidin is decreased in TFR2 hemochromatosis. Blood. 2005; 105: 1803-6.
39. Theurl I, Aigner E, Theurl M, et al Regulation of iron homeostasis in anemia of chronic disease and iron deficiency anemia: diagnostic and therapeutic implications. Blood. 2009; 113: 5277-86.
40. Gehrke SG, Kulaksiz H, Herrmann T, et al Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood. 2003; 102: 371-6.
41. Valore EV, Ganz T. Posttranslational processing of hepcidin in human hepatocytes is mediated by the prohormone convertase furin. Blood Cells Mol Dis. 2008; 40: 132-8.
42. Peslova G, Petrak J, Kuzelova K, et al Hepcidin, the hormone of iron metabolism, is bound specifically to alpha-2-macroglobulin in blood. Blood. 2009; 113: 6225-36.