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

页码：127 / 128

页数：2

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