[PDF][PDF] Hfe acts in hepatocytes to prevent hemochromatosis

MV Spasić, J Kiss, T Herrmann, B Galy, S Martinache… - Cell metabolism, 2008 - cell.com
MV Spasić, J Kiss, T Herrmann, B Galy, S Martinache, J Stolte, HJ Gröne, W Stremmel…
Cell metabolism, 2008cell.com
Hereditary hemochromatosis (HH) is a prevalent, potentially fatal disorder of iron
metabolism hallmarked by intestinal hyperabsorption of iron, hyperferremia, and hepatic iron
overload. In both humans and mice, type I HH is associated with mutations in the broadly
expressed HFE/Hfe gene. To identify where Hfe acts to prevent HH, we generated mice with
tissue-specific Hfe ablations. This work demonstrates that local Hfe expression in
hepatocytes serves to maintain physiological iron homeostasis, answering a long-standing …
Summary
Hereditary hemochromatosis (HH) is a prevalent, potentially fatal disorder of iron metabolism hallmarked by intestinal hyperabsorption of iron, hyperferremia, and hepatic iron overload. In both humans and mice, type I HH is associated with mutations in the broadly expressed HFE/Hfe gene. To identify where Hfe acts to prevent HH, we generated mice with tissue-specific Hfe ablations. This work demonstrates that local Hfe expression in hepatocytes serves to maintain physiological iron homeostasis, answering a long-standing question in medicine and explaining earlier clinical observations.
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