作者
Raed Daher, Caroline Kannengiesser, Dounia Houamel, Thibaud Lefebvre, Edouard Bardou-Jacquet, Nicolas Ducrot, Caroline De Kerguenec, Anne-Marie Jouanolle, Anne-Marie Robreau, Claire Oudin, Gerald Le Gac, Boualem Moulouel, Veronique Loustaud-Ratti, Pierre Bedossa, Dominique Valla, Laurent Gouya, Carole Beaumont, Pierre Brissot, Hervé Puy, Zoubida Karim, Dimitri Tchernitchko
发表日期
2016/3/1
期刊
Gastroenterology
卷号
150
期号
3
页码范围
672-683. e4
出版商
WB Saunders
简介
Background & Aims
Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by defective expression of liver hepcidin, the main regulator of iron homeostasis. Iron stimulates the gene encoding hepcidin (HAMP) via the bone morphogenetic protein (BMP)6 signaling to SMAD. Although several genetic factors have been found to cause late-onset hemochromatosis, many patients have unexplained signs of iron overload. We investigated BMP6 function in these individuals.
Methods
We sequenced the BMP6 gene in 70 consecutive patients with a moderate increase in serum ferritin and liver iron levels who did not carry genetic variants associated with hemochromatosis. We searched for BMP6 mutations in relatives of 5 probands and in 200 healthy individuals (controls), as well as in 2 other independent cohorts of hyperferritinemia patients. We …
学术搜索中的文章
R Daher, C Kannengiesser, D Houamel, T Lefebvre… - Gastroenterology, 2016