Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice

Blood. 2004 Apr 1;103(7):2841-3. doi: 10.1182/blood-2003-09-3358. Epub 2003 Dec 4.

Abstract

Hereditary hemochromatosis (HH) type I is a disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, its penetrance seems very low. The goal of our study was to determine whether hepcidin, a recently identified iron-regulatory peptide, could be a genetic modifier contributing to the HH phenotype. In mice, deficiency of either HFE (Hfe(-/-)) or hepcidin (Usf2(-/-)) is associated with the same pattern of iron overload observed in patients with HH. We intercrossed Hfe(-/-) and Usf2(+/-) mice and asked whether hepcidin deficiency increased the iron burden in Hfe(-/-) mice. Our results showed that, indeed, liver iron accumulation was greater in the Hfe(-/-)Usf2(+/-) mice than in mice lacking Hfe alone. This result, in agreement with recent findings in humans, provides a genetic explanation for some variability of the HH phenotype.

MeSH terms

  • Animals
  • Antimicrobial Cationic Peptides / deficiency*
  • Antimicrobial Cationic Peptides / genetics*
  • Base Sequence
  • Crosses, Genetic
  • DNA Primers
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Hepcidins
  • Histocompatibility Antigens Class I / genetics*
  • Iron / metabolism
  • Liver / metabolism
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • RNA / genetics
  • RNA / isolation & purification

Substances

  • Antimicrobial Cationic Peptides
  • DNA Primers
  • HAMP protein, human
  • Hamp protein, mouse
  • Hemochromatosis Protein
  • Hepcidins
  • Hfe protein, mouse
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • RNA
  • Iron