Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis

Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis

Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European descent. Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein, HFE. This mutation causes a recessive disease resulting in an accumulation of iron in selected ti...

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Autor principal: ENNS,CAROLINE A
Lenguaje:English
Publicado: Sociedad de Biología de Chile 2006
Materias:
hereditary hemochromatosis
HFE
iron overload
iron homeostasis
Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100013
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spelling oai:scielo:S0716-976020060001000132006-06-30Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasisENNS,CAROLINE A hereditary hemochromatosis HFE iron overload iron homeostasis Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European descent. Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein, HFE. This mutation causes a recessive disease resulting in an accumulation of iron in selected tissues. Iron overload damages these organs leading to cirrhosis of the liver, diabetes, cardiomyopathy, and arthritis. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. Lack of functional HFE in humans produces the opposite effects in different cell types in the body. In the early stages of the disease, Kupffer cells in the liver and enterocytes in the intestine cells are iron depleted and have low intracellular ferritin levels, whereas hepatocytes in the liver are iron overloaded and have high intracellular iron levels. This review gives the background and a model as to possible mechanisms of how HFE could exert different effects on iron homeostasis in different cell types.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.39 n.1 20062006-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100013en10.4067/S0716-97602006000100013
institution Scielo Chile
collection Scielo Chile
language English
topic hereditary hemochromatosis
HFE
iron overload
iron homeostasis
spellingShingle hereditary hemochromatosis
HFE
iron overload
iron homeostasis
ENNS,CAROLINE A
Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
description Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European descent. Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein, HFE. This mutation causes a recessive disease resulting in an accumulation of iron in selected tissues. Iron overload damages these organs leading to cirrhosis of the liver, diabetes, cardiomyopathy, and arthritis. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. Lack of functional HFE in humans produces the opposite effects in different cell types in the body. In the early stages of the disease, Kupffer cells in the liver and enterocytes in the intestine cells are iron depleted and have low intracellular ferritin levels, whereas hepatocytes in the liver are iron overloaded and have high intracellular iron levels. This review gives the background and a model as to possible mechanisms of how HFE could exert different effects on iron homeostasis in different cell types.
author ENNS,CAROLINE A
author_facet ENNS,CAROLINE A
author_sort ENNS,CAROLINE A
title Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
title_short Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
title_full Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
title_fullStr Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
title_full_unstemmed Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
title_sort possible roles of the hereditary hemochromatosis protein, hfe, in regulating cellular iron homeostasis
publisher Sociedad de Biología de Chile
publishDate 2006
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100013
work_keys_str_mv AT ennscarolinea possiblerolesofthehereditaryhemochromatosisproteinhfeinregulatingcellularironhomeostasis
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