title: Molecular and clinical correlates in iron overload associated with mutations in ferroportin.
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 N174I 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.
authors.affiliation: Dipartimento di Scienze Microbiologiche Genetiche e Molecolari, Università di Messina, 98166 Messina, Italia.
authors.forename: Ivana
authors.initials: I
authors.lastname: De Domenico
authors.forename: Diane
authors.initials: D
authors.lastname: McVey Ward
authors.forename: Elizabeta
authors.initials: E
authors.lastname: Nemeth
authors.forename: Tomas
authors.initials: T
authors.lastname: Ganz
authors.forename: Elena
authors.initials: E
authors.lastname: Corradini
authors.forename: Francesca
authors.initials: F
authors.lastname: Ferrara
authors.forename: Giovanni
authors.initials: G
authors.lastname: Musci
authors.forename: Antonello
authors.initials: A
authors.lastname: Pietrangelo
authors.forename: Jerry
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D019943:Amino Acid Substitution; D027682:Cation Transport Proteins / Q000235:genetics*; D003001:Cloning, Molecular; D006801:Humans; D019190:Iron Overload / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin