Molecular and clinical correlates in iron overload associated with mutations in ferroportin
De Domenico, I.; McVey Ward, D.; Nemeth, E.; Ganz, T.; Corradini, E.; Ferrara, F.; Musci, G.; Pietrangelo, A.; Kaplan, J.
Haematologica 91(8): 1092-1095
2006
ISSN/ISBN: 0390-6078 PMID: 16885049 Document Number: 597192
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.