Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.
Roetto
Antonella
A
Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
Papanikolaou
George
G
Politou
Marianna
M
Alberti
Federica
F
Girelli
Domenico
D
Christakis
John
J
Loukopoulos
Dimitris
D
Camaschella
Clara
C
D000595:Amino Acid Sequence; D023181:Antimicrobial Cationic Peptides / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins