| First Author | Nicolas G | Year | 2004 |
| Journal | Blood | Volume | 103 |
| Issue | 7 | Pages | 2841-3 |
| PubMed ID | 14656876 | Mgi Jnum | J:89047 |
| Mgi Id | MGI:3038014 | Doi | 10.1182/blood-2003-09-3358 |
| Citation | Nicolas G, et al. (2004) Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice. Blood 103(7):2841-3 |
| abstractText | 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. |
