Mutations in ferroportin (Fpn) result in iron overload. We correlate the behavior of three Fpn mutants in vitro with patients' phenotypes. Patients with Fpn mutations A77D or N174I showed macrophage iron loading. In cultured cells, FpnA77D did not reach the cell surface and cells did not export iron. Fpn mutant N1741 showed plasma membrane and intracellular localization, and did not transport iron. Fpn mutation G80S was targeted to the cell surface and was transport competent, however patients showed macrophage iron. We suggest that FpnG80S represents a class of Fpn mutants whose behavior in vitro does not explain the patients' phenotype.

Molecular and clinical correlates in iron overload associated with mutations in ferroportin / De Domenico, I.; Ward, D. M.; Nemeth, E.; Ganz, T.; Corradini, Elena; Ferrara, F.; Musci, G.; Pietrangelo, Antonello; Kaplan, J.. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 91(8):(2006), pp. 1092-1095.

Molecular and clinical correlates in iron overload associated with mutations in ferroportin

CORRADINI, Elena;PIETRANGELO, Antonello;
2006

Abstract

Mutations in ferroportin (Fpn) result in iron overload. We correlate the behavior of three Fpn mutants in vitro with patients' phenotypes. Patients with Fpn mutations A77D or N174I showed macrophage iron loading. In cultured cells, FpnA77D did not reach the cell surface and cells did not export iron. Fpn mutant N1741 showed plasma membrane and intracellular localization, and did not transport iron. Fpn mutation G80S was targeted to the cell surface and was transport competent, however patients showed macrophage iron. We suggest that FpnG80S represents a class of Fpn mutants whose behavior in vitro does not explain the patients' phenotype.
2006
91(8)
1092
1095
Molecular and clinical correlates in iron overload associated with mutations in ferroportin / De Domenico, I.; Ward, D. M.; Nemeth, E.; Ganz, T.; Corradini, Elena; Ferrara, F.; Musci, G.; Pietrangelo, Antonello; Kaplan, J.. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 91(8):(2006), pp. 1092-1095.
De Domenico, I.; Ward, D. M.; Nemeth, E.; Ganz, T.; Corradini, Elena; Ferrara, F.; Musci, G.; Pietrangelo, Antonello; Kaplan, J.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/612529
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