Abstract | BACKGROUND & AIMS: METHODS: The ferroportin disease variants R178Q andA77D and the HH4-variant C326Y were overexpressed in HEK-293T cells and subcellular localization was characterized by confocal microscopy and flow cytometry. Iron export and cytosolic ferritin were measured as markers of iron transport and radioligand binding studies were performed. The hepcidin- ferroportin axis was assessed by ferritin/ hepcidin correlation in patients with different iron storage diseases. RESULTS: CONCLUSIONS: These results support a novel concept that in certain FD variants reduced iron export and hepcidin resistance could be interlinked. Evasion of mutant ferroportin from hepcidin-mediated regulation could result in uncontrolled iron absorption and iron overload despite reduced transport function.
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Authors | André Viveiros, Marlene Panzer, Nadja Baumgartner, Benedikt Schaefer, Armin Finkenstedt, Benjamin Henninger, Igor Theurl, Karin Nachbaur, Günter Weiss, Roland Haubner, Clemens Decristoforo, Herbert Tilg, Heinz Zoller |
Journal | Liver international : official journal of the International Association for the Study of the Liver
(Liver Int)
Vol. 40
Issue 8
Pg. 1941-1951
(08 2020)
ISSN: 1478-3231 [Electronic] United States |
PMID | 32450003
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2020 The Authors. Liver International published by John Wiley & Sons Ltd. |
Chemical References |
- Cation Transport Proteins
- Hepcidins
- metal transporting protein 1
- Iron
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Topics |
- Cation Transport Proteins
- Hemochromatosis
(genetics)
- Hepcidins
(genetics)
- Humans
- Iron
- Iron Overload
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