title: The "anemic" enterocyte in hereditary hemochromatosis: molecular insights into the control of intestinal iron absorption.
abstract: Studies of the molecular function of HFE, the protein defective in hereditary hemochromatosis, have provided important insights into the control of intestinal iron absorption. A recent study suggests that HFE controls the recycling rate of the transferrin receptor and thereby ultimately controls the iron status of the enterocyte. In hereditary hemochromatosis, a defect in HFE causes relative iron starvation in the enterocyte leading paradoxically to the development of an "anemic" enterocyte phenotype in the midst of bountiful body iron stores. Despite ever-increasing stores of body iron, the inappropriately low iron status of the hereditary hemochromatosis enterocyte continues to drive the hyper-absorption of dietary iron, eventually leading to iron overload.
authors.affiliation: Mineral Bioavailability Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Wood
mesh_terms: D020895:Enterocytes / Q000378:metabolism* / Q000473:pathology; D006680:HLA Antigens / Q000235:genetics / Q000502:physiology; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000502:physiology; D006801:Humans; D007408:Intestinal Absorption / Q000235:genetics*; D007501:Iron / Q000378:metabolism*; D019266:Iron, Dietary / Q000493:pharmacokinetics; D008565:Membrane Proteins; D009154:Mutation
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D019266:Iron, Dietary; D008565:Membrane Proteins; D007501:Iron