Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

Rideau, Alexandra; Mangeat, Bastien; Matthes, Thomas; Trono, Didier; Beris, Photis

doi:10.3324/haematol.10545

Scientific article

Case report

English

Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

ContributorsRideau, Alexandra; Mangeat, Bastien; Matthes, Thomas; Trono, Didier; Beris, Photis

Published inHaematologica, vol. 92, no. 1, p. 127-128

Publication date2007-01

Abstract

We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.

Keywords

5' Untranslated Regions
Antimicrobial Cationic Peptides / blood
Antimicrobial Cationic Peptides / deficiency
Antimicrobial Cationic Peptides / genetics
Cell Line
Codon, Initiator
Hemochromatosis / blood
Hepcidins
Humans
Models, Biological
Mutation
Point Mutation
Protein Biosynthesis
RNA, Messenger / metabolism
Transfection

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de médecine

Research groups

Citation (ISO format)

RIDEAU, Alexandra et al. Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. In: Haematologica, 2007, vol. 92, n° 1, p. 127–128. doi: 10.3324/haematol.10545

Article (Published version)

OA OTHER

Identifiers

PID : unige:163753
DOI : 10.3324/haematol.10545
PMID : 17229647

Journal ISSN0390-6078

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Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

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