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• W1978544941 abstract "<b>Background and aims:</b> In HFE associated hereditary haemochromatosis, the duodenal enterocyte behaves as if iron deficient and previous reports have shown increased duodenal expression of divalent metal transporter 1 (<i>DMT1</i>) and iron regulated gene 1 (<i>Ireg1</i>) in affected subjects. In those studies, many patients had undergone venesection, which is a potent stimulus of iron absorption. Our study investigated duodenal expression of <i>DMT1</i> (<i>IRE</i> and non-<i>IRE</i>), <i>Ireg1</i>, <i>hephaestin</i>, and duodenal cytochrome-b (<i>Dyctb</i>) in untreated C282Y homozygous haemochromatosis patients, iron deficient patients, and iron replete subjects. <b>Methods:</b> Total RNA was extracted from duodenal biopsies and expression of the iron transport genes was assessed by ribonuclease protection assay. <b>Results:</b> Expression of <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> was increased 3–5-fold in iron deficient subjects compared with iron replete subjects. Duodenal expression of <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> was similar in haemochromatosis patients and iron replete subjects but in haemochromatosis patients with elevated serum ferritin concentrations, both <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> expression were inappropriately increased relative to serum ferritin concentration. <i>Hephaestin</i> and <i>Dcytb</i> levels were not upregulated in haemochromatosis. <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> levels showed significant inverse correlations with serum ferritin concentration in each group of patients. <b>Conclusions:</b> These findings are consistent with <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> playing primary roles in the adaptive response to iron deficiency. Untreated haemochromatosis patients showed inappropriate increases in <i>DMT1</i> (<i>IRE</i>) and <i>Ireg1</i> expression for a given level of serum ferritin concentration, although the actual level of expression of these iron transport genes was not significantly different from that of normal subjects." @default.
• W1978544941 created "2016-06-24" @default.
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• W1978544941 date "2003-07-01" @default.
• W1978544941 modified "2023-09-27" @default.
• W1978544941 title "Duodenal expression of iron transport molecules in untreated haemochromatosis subjects" @default.
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• W1978544941 doi "https://doi.org/10.1136/gut.52.7.953" @default.
• W1978544941 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1773733" @default.
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