Sceening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)

Antonella Roetto, Filomena Daraio, Paolo Porporato, Roberta Caruso, Timothy M. Cox, Mario Cazzola, Paolo Gasparini, Alberto Piperno, Clara Camaschella

Research output: Contribution to journalArticlepeer-review

Abstract

Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (HEPC). Hepcidin is a hepatic antimicrobial-like peptide whose role in iron homeostasis was first defined in animal models; deficiency of hepcidin in mice leads to iron overload, whereas its hepatic overexpression in transgenic animals causes iron deficiency. To define the prevalence of HEPC mutations in JH we screened the HEPC gene for mutation in 21 unrelated JH subjects. We Identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide.

Original languageEnglish
Pages (from-to)2407-2409
Number of pages3
JournalBlood
Volume103
Issue number6
DOIs
Publication statusPublished - Mar 15 2004

ASJC Scopus subject areas

  • Hematology

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