Hfe acts in hepatocytes to prevent hemochromatosis

Cell Metab. 2008 Feb;7(2):173-8. doi: 10.1016/j.cmet.2007.11.014.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Hemochromatosis / etiology*
  • Hemochromatosis Protein
  • Hepatocytes / metabolism*
  • Histocompatibility Antigens Class I / genetics
  • Histocompatibility Antigens Class I / physiology*
  • Homeostasis
  • Iron / metabolism
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Mutant Strains
  • Mutation

Substances

  • Hemochromatosis Protein
  • Hfe protein, mouse
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron