Iron overload disease due to mutations in ferroportin has a dominant inheritance and a variable clinical phenotype, such that some patients show early Küpffer cell iron loading and low transferrin saturation, while others show hepatocyte iron loading and high transferrin saturation. Studies expressing ferroportin mutant proteins in cultured cells have shown that mutant proteins fall into two main classes; proteins that do not localize to the cell surface and are unable to export iron, and those that localize to the cell surface but are unable to respond to the antimicrobial peptide hepcidin. Patients with mutant ferroportin proteins that do not localize to the cell surface show typical ferroportin disease with low transferrin saturation and early Küpffer cell iron loading, while patients with mutant proteins unable to respond to hepcidin show high transferrin saturation and early hepatocyte iron loading similar to classic hereditary hemochromatosis. The dominant genetic transmission of ferroportin-linked disorders is explained by the in vitro data, which suggest that ferroportin is a multimer and that the behavior of the mutant protein can affect the behavior of the wild type protein.

Prevalence of ras gene mutations in the context of a molecular classification of multiple myeloma / D. Intini, L. Agnelli, S. Fabris, G.M. Ciceri, R.L. Nobili, L. Baldini, F. Morabito, S. Bicciato, L. Lombardi, A. Zanella, G. Lambertenghi Deliliers, A. Neri. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 91:Suppl. 1(2006), pp. 92-93. ((Intervento presentato al 11. convegno Congress of the European Hematology Association tenutosi a Amsterdam nel 2006.

Prevalence of ras gene mutations in the context of a molecular classification of multiple myeloma

D. Intini
Primo
;
L. Agnelli;S. Fabris;G.M. Ciceri;R.L. Nobili;L. Baldini;G. Lambertenghi Deliliers
Penultimo
;
A. Neri
Ultimo
2006

Abstract

Iron overload disease due to mutations in ferroportin has a dominant inheritance and a variable clinical phenotype, such that some patients show early Küpffer cell iron loading and low transferrin saturation, while others show hepatocyte iron loading and high transferrin saturation. Studies expressing ferroportin mutant proteins in cultured cells have shown that mutant proteins fall into two main classes; proteins that do not localize to the cell surface and are unable to export iron, and those that localize to the cell surface but are unable to respond to the antimicrobial peptide hepcidin. Patients with mutant ferroportin proteins that do not localize to the cell surface show typical ferroportin disease with low transferrin saturation and early Küpffer cell iron loading, while patients with mutant proteins unable to respond to hepcidin show high transferrin saturation and early hepatocyte iron loading similar to classic hereditary hemochromatosis. The dominant genetic transmission of ferroportin-linked disorders is explained by the in vitro data, which suggest that ferroportin is a multimer and that the behavior of the mutant protein can affect the behavior of the wild type protein.
Disease; Ferroportin; Hemochromatosis; Hepcidin; Human; Iron; Mutations; Subcellular Localization
Settore MED/15 - Malattie del Sangue
European Hematology Association
Article (author)
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/66200
Citazioni
  • ???jsp.display-item.citation.pmc??? 15
  • Scopus 73
  • ???jsp.display-item.citation.isi??? ND
social impact