Aspectos moleculares de la absorción duodenal de hierro. Papel del gen HFE

Gastroenterología y Hepatología - Tập 26 - Trang 86-93 - 2003
P. Guix1, M. Parera1, J.A. Castro2, A. Picornell2, M.M. Ramón2, A. Obrador3
1Servicio de Análisis Clínicos
2Laboratorio de Genética, Departament de Biologia. Universitat de les Illes Balears. Palma de Mallorca. España
3Servicio de Digestivo. Hospital Universitario Son Dureta

Tài liệu tham khảo

Feder, 1996, A novel MHC Class I-Like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399 Roy, 2000, Iron homeostasis: new tales from the crypt, Blood, 96, 4020, 10.1182/blood.V96.13.4020 Britton, 1996, Metal-induced hepatoxicity, Semin Liver Dis, 16, 3, 10.1055/s-2007-1007214 Bacon, 1990, The pathology of hepatic iron overload: a free radical-mediated process?, Hepatology, 11, 127, 10.1002/hep.1840110122 Niemelä, 1999, Hepatic lipid peroxidation in hereditary hemochromatosis and alcoholic liver injury, J Lab Clin Med, 133, 451, 10.1016/S0022-2143(99)90022-7 Mckie, 2001, An iron regulated ferric reductase associated with the absorption of dietary iron, Science, 291, 1755, 10.1126/science.1057206 Conrad, 1963, Intestinal mucosal mechanism controlling iron absorption, Blood, 22, 406, 10.1182/blood.V22.4.406.406 Gunshin, 1997, Cloning and characterization of a mammalian proton-coupled metal-ion transporter, Nature, 388, 482, 10.1038/41343 Andrews, 1999, The iron transporter DMT1, Int J Biochem Cell Biol, 31, 991, 10.1016/S1357-2725(99)00065-5 Anderson, 1996, Control of iron absorption, J Gastroenterol Hepatol, 11, 1030, 10.1111/j.1440-1746.1996.tb00029.x Conrad, 1993, Iron absorption-mucin-mobilferrinintegrin pathway. A competitive pathway for metal absorption, Am J Hematol, 42, 67, 10.1002/ajh.2830420114 Donovan, 2000, Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter, Nature, 403, 776, 10.1038/35001596 Mckie, 2000, A novel duodenal ion-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation, Mol Cell, 5, 299, 10.1016/S1097-2765(00)80425-6 Abboud, 2000, A novel mammalian iron regulated protein involved in intracellular iron metabolism, J Biol Chem, 275, 19906, 10.1074/jbc.M000713200 Vulpe, 1999, Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse, Nat Genet, 21, 195, 10.1038/5979 Fleming, 1998, Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport, Proc Natl Acad Sci USA, 95, 1148, 10.1073/pnas.95.3.1148 Aisen, 1999, Iron metabolism, Curr Opin Chem Biol, 3, 200, 10.1016/S1367-5931(99)80033-7 Richardson, 1997, The molecular mechanisms of the metabolism and transport of iron in normal and neoplasic cells, Biochim Biophys Acta, 1331, 1, 10.1016/S0304-4157(96)00014-7 Kawabata, 1999, Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor like family, J Biol Chem, 274, 20826, 10.1074/jbc.274.30.20826 Montosi, 2001, Autosomal dominant hemochromatosis associated with a mutation in the ferroportin (SLC11A3) gene, J Clin Invest, 108, 619, 10.1172/JCI200113468 Brown, 2000, Hepatic iron metabolism in hemochromatosis, 157 Sayers, 1994, Capacity of the store-regulator in maintaining iron balance, Am J Hematol, 47, 194, 10.1002/ajh.2830470309 Andrews, 2000, Intestinal iron absorption: currents concepts circa 2000, Dig Liver Dis, 32, 56, 10.1016/S1590-8658(00)80045-6 Hunt, 2000, Adaptation on iron absorption in men consuming diets with high or low iron bioavailability, Am J Clin Nutr, 71, 94, 10.1093/ajcn/71.1.94 Flowers, 1986, A serum ferritin assay for prevalence studies of iron deficiency, Am J Hematol, 23, 141, 10.1002/ajh.2830230209 Taylor, 1988, Relationships among iron absorption, percent saturation of plasma transferrin and serum ferritin concentration in humans, J Nutr, 118, 1110, 10.1093/jn/118.9.1110 Cook, 1990, Serum transferrin receptor as an index of iron absorption, Br J Haematol, 75, 603, 10.1111/j.1365-2141.1990.tb07806.x Feelders, 1999, Sructure, function and clinical significance of transferrin receptors, Clin Chem Lab Med, 37, 1, 10.1515/CCLM.1999.001 Raja, 1999, Importance of anemia and transferrin levels in the regulation of intestinl iron absortion in hypotransferrinemic mice, Blood, 94, 3185, 10.1182/blood.V94.9.3185 Nicolas, 2001, Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice, Proc Natl Acad Sci USA, 98, 8780, 10.1073/pnas.151179498 Fleming, 2001, Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease, Proc Natl Acad Sci USA, 98, 8160, 10.1073/pnas.161296298 Feelders, 1999, Structure function and clinical significance of transferrin receptors, Clin Chem Lab Med, 37, 1, 10.1515/CCLM.1999.001 Finch, 1994, Regulators of iron balance in humans, Blood, 84, 1697, 10.1182/blood.V84.6.1697.1697 Cazzola, 1999, Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis, Br J Haematol, 106, 752, 10.1046/j.1365-2141.1999.01600.x Hahn, 1943, Radioactive iron absorption by gastrointestinal tract: influence of anemia, anoxia, and antecedent feeding, J Exp Med, 78, 169, 10.1084/jem.78.3.169 Beutler, 1997, How little we know about the absorption of iron, Am J Clin Nutr, 66, 419, 10.1093/ajcn/66.2.419 Lok, 1999, Identification of a hypoxia response element in the transferrin receptor gene, J Biol Chem, 274, 24147, 10.1074/jbc.274.34.24147 Rolfs, 1997, Oxygen related transferrin expression is mediated by hipoxia inducible factor 1, J Biol Chem, 272, 20055, 10.1074/jbc.272.32.20055 Toth, 1999, Hipoxia alters iron regulatory protein 1 binding capacity and modulates cellular iron homeostasis in human hepatoma and erythroleukemia cells, J Biol Chem, 274, 24467, 10.1074/jbc.274.7.4467 Tacchini, 1999, Transferrin receptor induction by hypoxia. HIF-1 mediated transcriptional activation and cell especific post-transcriptional regulation, J Biol Chem, 274, 24142, 10.1074/jbc.274.34.24142 Lombard, 1997, Regulation of intestinal non.haem iron absorption, Gut, 40, 435, 10.1136/gut.40.4.435 Townsend, 2002, Role of the HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload, Lancet, 359, 786, 10.1016/S0140-6736(02)07885-6 Ponka, 1998, Function and regulation of transferrin and ferritin, Semin Hematology, 35, 35 Pietrangelo, 2002, Physiology of iron transport and the hemochromatosis gene, Am J Physiol Gastrointes Liver Physiol, 282, G403, 10.1152/ajpgi.00404.2001 Hentze, 1995, Translational regulation: versatile mechanisms for metabolic and developmental control, Curr Opin cell Biol, 7, 393, 10.1016/0955-0674(95)80095-6 Lee, 1998, The human Nramp 2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms, Blood Cells Mol Dis, 24, 199, 10.1006/bcmd.1998.0186 Cairo, 2000, Iron regulatory proteins in pathobiology, Biochem J, 352, 241, 10.1042/0264-6021:3520241 Lebron, 1998, Crystal structure of the hemochromatosis protein HFE and characterizacion of its interaction with transferrin receptor, Cell, 95, 111, 10.1016/S0092-8674(00)81151-4 Parkkila, 1997, Immunochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract, Proc Natl Acad Sci USA, 94, 2534, 10.1073/pnas.94.6.2534 Waheed, 1999, Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum, Proc Natl Acad Sci USA, 96, 1579, 10.1073/pnas.96.4.1579 Parkkila, 1997, Association of the transferrin receptor in human placenta with HFE the protein defective in hereditary hemochromatosis, Proc Natl Acad Sci USA, 94, 1198, 10.1073/pnas.94.24.13198 Feder, 1997, The Hemochromatosis founder Mutation in HLAH disrupts β2-microglobulin interaction and cell surface expression, J Biol Chem, 272, 14025, 10.1074/jbc.272.22.14025 Waheed, 1997, Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with β2-microglobulin, intracelular processing, and cell surface expression of the HFE protein in COS-7 cells, Proc Natl Acad Sci USA, 94, 12384, 10.1073/pnas.94.23.12384 Rothenberg, 1996, Beta-2 Knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism, Proc Nat Acad Sci, 93, 1529, 10.1073/pnas.93.4.1529 Santos, 1996, Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemocromatosis in man, J Exp Med, 184, 1975, 10.1084/jem.184.5.1975 Bastin, 1998, Townsend ARM. Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis, Br J Haematol, 103, 931, 10.1046/j.1365-2141.1998.01102.x Byrnes, 2000, Inmunohistochemistry of the HFE protein in patients with hereditary hemochromatosis, iron deficiency anemia, and normal controls, Blood Cells Mol Dis, 26, 2, 10.1006/bcmd.2000.0270 Townsend, 1989, Antigen recognition by class I-restricted T lymphocytes, Annu Rev Immunol, 7, 601, 10.1146/annurev.iy.07.040189.003125 Parkkila, 2001, Molecular aspects of iron absortion and HFE expresion, Gastroenterology, 121, 1489, 10.1053/gast.2001.29617 West AP, 2000, Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE, J Biol Chem, 275, 38135, 10.1074/jbc.C000664200 Ramalingam, 2000, Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis, Nat Cell Biol, 2, 953, 10.1038/35046611 Gross, 1998, Co-trafficking of HFE a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation, J Biol Chem, 273, 22068, 10.1074/jbc.273.34.22068 Roy, 1999, Hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells, J Biol Chem, 274, 9022, 10.1074/jbc.274.13.9022 Feder, 1998, The hemochromatosis gene product complexes with the transferin receptor and lowers its affinity for ligand binding, Proc Natl Acad Sci USA, 95, 1472, 10.1073/pnas.95.4.1472 Salter-Cid, 1999, Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis, Proc Natl Acad Sci USA, 96, 5434, 10.1073/pnas.96.10.5434 Pietrangelo, 1992, Regulation of transferrin, transferrin receptor and ferritin genes in human duodenum, Gastroenterology, 102, 802, 10.1016/0016-5085(92)90161-Q Zoller, 1999, Duodenal metaltransporter (DMT-1, NRAMP-2) expression in patients with hereditary hemocromatosis, Lancet, 353, 2120, 10.1016/S0140-6736(98)11179-0 Montosi, 2000, Wild type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemocromatosis, Blood, 96, 1125, 10.1182/blood.V96.3.1125 Lebron, 1999, The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor, J Mol Biol, 294, 239, 10.1006/jmbi.1999.3252 Wallace, 2002, Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis, Blood, 100, 692, 10.1182/blood.V100.2.692 Devalia, 2002, Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroporrin 1 gene (SLC11A3), Blood, 100, 695, 10.1182/blood-2001-11-0132 Girelli, 2002, Clinical pathologic findings in hemocromatosis type 3 due to a novel mutation in transferrin receptor 2 gene, Gastroenterology, 122, 1295, 10.1053/gast.2002.32984 Philpott, 2002, Molecular aspects of iron absortion: insights into the role of HFE in hemocromatosis, Hepatology, 35, 993, 10.1053/jhep.2002.33466