title: Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).
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.
authors: Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Turin, Italy.
authors: Antonella
authors: A
authors: Roetto
authors: Filomena
authors: F
authors: Daraio
authors: Paolo
authors: P
authors: Porporato
authors: Roberta
authors: R
authors: Caruso
authors: Timothy M
authors: TM
authors: Cox
authors: Mario
authors: M
authors: Cazzola
authors: Paolo
authors: P
authors: Gasparini
authors: Alberto
authors: A
authors: Piperno
authors: Clara
authors: C
authors: Camaschella
mesh_terms: D000595:Amino Acid Sequence; D023181:Antimicrobial Cationic Peptides / Q000737:chemistry / Q000235:genetics*; D002648:Child; D003545:Cysteine / Q000235:genetics; D005820:Genetic Testing; D006432:Hemochromatosis / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011487:Protein Conformation
chemical_list: D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; C579599:Hamp protein, mouse; D064451:Hepcidins; D003545:Cysteine