Recent advances in understanding haemochromatosis: a transition state
Identifieur interne : 002E87 ( Main/Exploration ); précédent : 002E86; suivant : 002E88Recent advances in understanding haemochromatosis: a transition state
Auteurs : K J H. Robson [Royaume-Uni] ; A T Merryweather-Clarke [Royaume-Uni] ; E. Cadet [France] ; V. Viprakasit [Royaume-Uni, Thaïlande] ; M G Zaahl [Afrique du Sud] ; J J Pointon [Royaume-Uni] ; D J Weatherall [Royaume-Uni] ; J. Rochette [France]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2004-10.
English descriptors
- KwdEn :
- ACD, anaemia of chronic disease, AD, Alzheimer’s disease, Cp−/− mice, ceruloplasmin null mice, HFE, HH, hereditary haemochromatosis, IEL, intra-epithelial lymphocytes, IL-6, interleukin 6, IRE, iron responsive element, JH, juvenile haemochromatosis, MHC, major histocompatibility complex, NF-κB, nuclear factor κB, NRAMP1, natural resistance associated macrophage protein 1, PKAN, pantothenate kinase associated neurodegeneration, Pcm, polycythaemic mice, SLC11A1, solute carrier family 1 member 1, SLC11A2, solute carrier family 1 member 2, TFR2, transferrin receptor 2 gene, TfR2, transferrin receptor 2, ferroportin, haemochromatosis, hemojuvelin, hepcidin, β2M, β2-microglobulin.
Abstract
Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host’s response to infection.
Url:
DOI: 10.1136/jmg.2004.020644
Affiliations:
- Afrique du Sud, France, Royaume-Uni, Thaïlande
- Angleterre, Hauts-de-France, Oxfordshire, Picardie
- Amiens, Oxford
- Université d'Oxford
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Rochette</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Génétique Médicale-CHU, Faculté de Médecine, Université de Picardie Jules Verne, UMR-INERIS, Amiens</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Picardie</region><settlement type="city">Amiens</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2004-10">2004-10</date><biblScope unit="volume">41</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="721">721</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">B940A96E4A8A2FA48489875D04522DE35436EA2F</idno><idno type="DOI">10.1136/jmg.2004.020644</idno><idno type="href">jmedgenet-41-721.pdf</idno><idno type="PMID">15466004</idno><idno type="local">0410721</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ACD, anaemia of chronic disease</term><term>AD, Alzheimer’s disease</term><term>Cp−/− mice, ceruloplasmin null mice</term><term>HFE</term><term>HH, hereditary haemochromatosis</term><term>IEL, intra-epithelial lymphocytes</term><term>IL-6, interleukin 6</term><term>IRE, iron responsive element</term><term>JH, juvenile haemochromatosis</term><term>MHC, major histocompatibility complex</term><term>NF-κB, nuclear factor κB</term><term>NRAMP1, natural resistance associated macrophage protein 1</term><term>PKAN, pantothenate kinase associated neurodegeneration</term><term>Pcm, polycythaemic mice</term><term>SLC11A1, solute carrier family 1 member 1</term><term>SLC11A2, solute carrier family 1 member 2</term><term>TFR2, transferrin receptor 2 gene</term><term>TfR2, transferrin receptor 2</term><term>ferroportin</term><term>haemochromatosis</term><term>hemojuvelin</term><term>hepcidin</term><term>β2M, β2-microglobulin</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host’s response to infection.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>France</li><li>Royaume-Uni</li><li>Thaïlande</li></country><region><li>Angleterre</li><li>Hauts-de-France</li><li>Oxfordshire</li><li>Picardie</li></region><settlement><li>Amiens</li><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Robson, K J H" sort="Robson, K J H" uniqKey="Robson K" first="K J H" last="Robson">K J H. Robson</name></noRegion><name sortKey="Merryweather Clarke, A T" sort="Merryweather Clarke, A T" uniqKey="Merryweather Clarke A" first="A T" last="Merryweather-Clarke">A T Merryweather-Clarke</name><name sortKey="Pointon, J J" sort="Pointon, J J" uniqKey="Pointon J" first="J J" last="Pointon">J J Pointon</name><name sortKey="Viprakasit, V" sort="Viprakasit, V" uniqKey="Viprakasit V" first="V" last="Viprakasit">V. Viprakasit</name><name sortKey="Weatherall, D J" sort="Weatherall, D J" uniqKey="Weatherall D" first="D J" last="Weatherall">D J Weatherall</name></country><country name="France"><region name="Hauts-de-France"><name sortKey="Cadet, E" sort="Cadet, E" uniqKey="Cadet E" first="E" last="Cadet">E. Cadet</name></region><name sortKey="Rochette, J" sort="Rochette, J" uniqKey="Rochette J" first="J" last="Rochette">J. Rochette</name></country><country name="Thaïlande"><noRegion><name sortKey="Viprakasit, V" sort="Viprakasit, V" uniqKey="Viprakasit V" first="V" last="Viprakasit">V. Viprakasit</name></noRegion></country><country name="Afrique du Sud"><noRegion><name sortKey="Zaahl, M G" sort="Zaahl, M G" uniqKey="Zaahl M" first="M G" last="Zaahl">M G Zaahl</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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