Mechanisms of iron accumulation in hereditary hemochromatosis

Annual Review of Physiology

Volumn 64, Issue , 2002, Pages 663-680

  Fleming, Robert E ^a   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

2 microglobulin; HFE; Iron absorption; Transferrin receptor

Indexed keywords

ARTHRITIS; HEART FAILURE; HEMOCHROMATOSIS; HUMAN; IMPOTENCE; IRON ABSORPTION; IRON METABOLISM; LIVER FAILURE; PRIORITY JOURNAL; REVIEW;

HEMOCHROMATOSIS; HUMANS; IRON;

EID: 0036196205     PISSN: 00664278     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.physiol.64.081501.155838     Document Type: Review

References (104)

1. Hereditary hemochromatosis: Pathogenesis and clinical features of a common disease
2. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
3. Disorders of iron metabolism
4. Regulators of iron balance in humans
5. Evidence that iron stores regulate iron absorption - A setpoint theory
6. An iron-regulated ferric reductase associated with the absorption of dietary iron
7. Cloning and characterization of a mammalian proton-coupled metal-ion transporter
8. An integrin-mobilferrin iron transport pathway in intestine and hematopoietic cells
9. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
10. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
11. A novel mammalian iron-regulated protein involved in intracellular iron metabolism
12. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the s1a mouse
13. A duodenal mucosal abnormality in the reduction of Fe(III) in patients with genetic haemochromatosis
14. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
15. Duodenal iron proteins in idiopathic hemochromatosis
16. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload
17. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
18. Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
19. Iron and the liver
20. Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states
21. A non-transferrin-bound serum iron in idiopathic hemochromatosis
22. Differential regulation of iron regulatory element-binding protein(s) in cell extracts of activated lymphocytes versus monocytes-macrophages
23. Iron metabolism in reticuloendothelial cells
24. Reticuloendothelial iron stores and hereditary hemochromatosis: A paradox
25. Iron release from human monocytes after erythrophagocytosis in vitro: An investigation in normal subjects and hereditary hemochromatosis patients
26. Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis
27. Relationships among iron absorption, percent saturation of plasma transferrin and serum ferritin concentration in humans
28. Adaptation in iron metabolism
29. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
30. Lack of hepcidin gene expression and severe tissue iron overload in Upstream Stimulator Factor 2 (USF2) knockout mice
31. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
32. Control of iron absorption
33. Iron homeostasis: New tales from the crypt
34. Capacity of the store-regulator in maintaining iron balance
35. Iron regulatory protein as an endogenous sensor of iron in rat intestinal mucosa. Possible implications for the regulation of iron absorption
36. Iron regulatory proteins, iron responsive elements and iron homeostasis
37. Hemochromatosis: Diagnosis and management
38. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
39. HFE gene knockout produces mouse model of hereditary hemochromatosis
40. The HFE gene undergoes alternate splicing processes
41. Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
42. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: Comparison of the human, mouse and rat HFE promoter regions
43. Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: Implications for cellular iron homeostasis
44. Reciprocal regulation of HFE and Namp2 gene expression by iron in human intestinal cells
45. The hereditary hemochromatosis gene and iron homeostasis
46. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
47. The three-dimensional structure of HLA-B27 at 2.1 Å resolution suggests a general mechanism for tight peptide binding to MHC
48. Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary haemochromatosis
49. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
50. Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes
51. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
52. Immunohistochemistry of the HFE protein in patients with hereditary hemochromatosis, iron deficiency anemia, and normal controls
53. Immunohistochemistry of HFE in the duodenum of C282Y homozygotes with antisera for recombinant HFE protein
54. Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
55. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
56. Mutation analysis in hereditary hemochromatosis
57. Global prevalence of putative haemochromatosis mutations
58. A candidate gene for hemochromatosis: Frequency of the C282Y and H63D mutations
59. Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism
60. A population-based study of the clinical expression of the hemochromatosis gene
61. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - A very rare mutation in the Chinese population
62. The hemochromatosis 845 G → A and 187 C → G mutations: Prevalence in non-Caucasian populations
63. Multicentric origin of hemochromatosis gene (HFE) mutations
64. Prevalence of the C282Y mutation in Brittany: Penetrance of genetic hemochromatosis?
65. Molecular medicine and hemochromatosis: At the crossroads
66. Haemochromatosis, HFE and genetic complexity
67. Uncommon mutations and polymorphisms in the hemochromatosis gene
68. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
69. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
70. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
71. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
72. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
73. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
74. Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation
75. Iron overload in beta 2-microglobulin-deficient mice
76. Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man
77. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
78. The major histocompatibility complex-encoded class I-like HFE abrogates endocytosis of transferrin receptor by inducing receptor phosphorylation
79. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
80. The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor
81. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
82. Transferrin receptor mutation analysis in hereditary hemochromatosis patients
83. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
84. Overexpression of the hereditary hemochromatosis protein, HFE, in HeLa cells induces an iron-deficient phenotype
85. HFE downregulates iron uptake from transferrin and induces iron-regulatory protein activity in stably transfected cells
86. HFE inhibits apical iron uptake by intestinal epithelial (Caco-2) cells
87. Intestinal mucosal uptake of iron and iron retention in idiopathic haemochromatosis as evidence for a mucosal abnormality
88. Duodenal iron proteins in idiopathic hemochromatosis
89. Duodenal ferritin synthesis in genetic hemochromatosis
90. Iron overload: Molecular clues to its cause
91. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: Increased duodenal expression of the iron transporter DMT1
92. Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis
93. Genes that modify the hemochromatosis phenotype in mice
94. Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders
95. The mouse HFE gene
96. Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene
97. The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene cluster
98. Experimental hemochromatosis due to MHC class I HFE deficiency: Immune status and iron metabolism
99. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis
100. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
101. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
102. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
103. Dominant hemochromatosis is associated with a mutation in the ferroportin (SCL11A3) gene