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Molecular basis of HFE-hemochromatosis
Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-H...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949417/ https://www.ncbi.nlm.nih.gov/pubmed/24653703 http://dx.doi.org/10.3389/fphar.2014.00042 |
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author | Vujić, Maja |
author_facet | Vujić, Maja |
author_sort | Vujić, Maja |
collection | PubMed |
description | Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH-associated pathologies. |
format | Online Article Text |
id | pubmed-3949417 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-39494172014-03-20 Molecular basis of HFE-hemochromatosis Vujić, Maja Front Pharmacol Pharmacology Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH-associated pathologies. Frontiers Media S.A. 2014-03-11 /pmc/articles/PMC3949417/ /pubmed/24653703 http://dx.doi.org/10.3389/fphar.2014.00042 Text en Copyright © 2014 Vujić. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pharmacology Vujić, Maja Molecular basis of HFE-hemochromatosis |
title | Molecular basis of HFE-hemochromatosis |
title_full | Molecular basis of HFE-hemochromatosis |
title_fullStr | Molecular basis of HFE-hemochromatosis |
title_full_unstemmed | Molecular basis of HFE-hemochromatosis |
title_short | Molecular basis of HFE-hemochromatosis |
title_sort | molecular basis of hfe-hemochromatosis |
topic | Pharmacology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949417/ https://www.ncbi.nlm.nih.gov/pubmed/24653703 http://dx.doi.org/10.3389/fphar.2014.00042 |
work_keys_str_mv | AT vujicmaja molecularbasisofhfehemochromatosis |