Pediatric Ferroportin Disease
نویسندگان
چکیده
From the Servicio d Guadalajara, Guadal lidades Médicas, U zServicio de Radiolo dalajara, and the §In Madrid, Spain. Address correspondence Jiménez, PhD, Cen Hospital 12 de Octub (e-mail: moranjimen The authors report no co Copyright # 2016 by E Hepatology, and Nu Gastroenterology, H article distributed un tion-Non Commerci where it is permissib properly cited. The commercially withou DOI: 10.1097/MPG.000 CASE REPORT
منابع مشابه
Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.
Ferroportin is a multipass membrane protein that serves as an iron exporter in many vertebrate cell types. Ferroportin-mediated iron export is controlled by the hormone hepcidin, which binds ferroportin, causing its internalization and degradation. Mutations in ferroportin cause a form of the iron overload hereditary disease hemochromatosis. Relatively little is known about ferroportin's proper...
متن کاملThe flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1). All reported human mutations are missense mutations and heterozygous null mutations in mouse Fpn do not recapitulate the human disease. Here we describe the flatiron (ffe) mouse with a missense mutation (H32R) in Fpn that affects its localization and iron export activity. Similar t...
متن کاملPrimary iron overload with inappropriate hepcidin expression in V162del ferroportin disease.
Ferroportin disease (hemochromatosis type 4) is a recently recognized disorder of human iron metabolism, characterized by iron deposition in macrophages, including Kupffer cells. Mutations in the gene encoding ferroportin 1, a cellular iron exporter, are responsible for this iron storage disease, inherited as an autosomal dominant trait. We present clinical, histopathological, and radiological ...
متن کاملHepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2.
Hepcidin is a hormone secreted in response to iron loading and inflammation. Hepcidin binds to the iron exporter ferroportin, inducing its degradation and thus preventing iron entry into plasma. We determined that hepcidin binding to ferroportin leads to the binding and activation of the protein Janus Kinase2 (Jak2), which is required for phosphorylation of ferroportin. Ferroportin is a dimer a...
متن کاملFerroportin disease: A systematic meta-analysis of clinical and molecular findings☆
BACKGROUND & AIMS Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 enco...
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