Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis
2007
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.
Details
Title
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis
Author(s)
Rideau, Alexandra ; Mangeat, Bastien ; Matthes, Thomas ; Trono, Didier ; Beris, Photis
Published in
Haematologica
Volume
92
Issue
1
Pages
127-8
Date
2007
Publisher
Pensiero Scientifico / Ferrata Storti Foundation
ISSN
1592-8721
Keywords
Laboratories
LVG
Record Appears in
Scientific production and competences > SV - School of Life Sciences > GHI - Global Health Institute > LVG - Laboratory of Virology and Genetics
Work outside EPFL
Journal Articles
Published
Work outside EPFL
Journal Articles
Published
Record creation date
2010-04-26