Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

被引:6
作者
Rideau, Alexandra
Mangeat, Bastien
Matthes, Thomas
Trono, Didier
Beris, Photis
机构
[1] Univ Geneva, Dept Internal Med, Hematol Serv, Geneva, Switzerland
[2] Univ Geneva, Dept Microbiol & Mol Med, Fac Med, Geneva, Switzerland
[3] Ecole Polytech Fed Lausanne, Lab Virol & Genet, CH-1015 Lausanne, Switzerland
来源
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2007年 / 92卷 / 01期
关键词
juvenile hemochromatosis; Kozak consensus sequence; hepcidin; HAMP gene;
D O I
10.3324/haematol.10545
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:127 / 128
页数:2
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