The molecular basis of ferroportin-linked hemochromatosis

Authors:
De Domenico I, Ward DM, Nemeth E, Vaughn MB, Musci G, Ganz T and Kaplan J
In:
Source: Proc Natl Acad Sci USA
Publication Date: (2005)
Issue: 102(25): 8955-8960
Research Area:
Cancer Research/Cell Biology
Cells used in publication:
HeLa
Species: human
Tissue Origin: cervix
293T
Species: human
Tissue Origin: kidney
COS-7
Species: monkey
Tissue Origin: kidney
Platform:
Nucleofector® I/II/2b
Abstract
Mutations in the iron exporter ferroportin (Fpn) (IREG1, SLC40A1, and MTP1) result in hemochromatosis type IV, a disorder with a dominant genetic pattern of inheritance and heterogeneous clinical presentation. Most patients develop iron loading of Kupffer cells with relatively low saturation of plasma transferrin, but others present with high transferrin saturation and iron-loaded hepatocytes. We show that known human mutations introduced into mouse Fpn-GFP generate proteins that either are defective in cell surface localization or have a decreased ability to be internalized and degraded in response to hepcidin. Studies using coimmunoprecipitation of epitope-tagged Fpn and size-exclusion chromatography demonstrated that Fpn is multimeric. Both WT and mutant Fpn participate in the multimer, and mutant Fpn can affect the localization of WT Fpn, its stability, and its response to hepcidin. The behavior of mutant Fpn in cell culture and the ability of mutant Fpn to act as a dominant negative explain the dominant inheritance of the disease as well as the different patient phenotypes