铁过载疾病认识的最新进展：一种过渡状态
Recent advances in understanding haemochromatosis: a transition state.
作者信息
Robson K J H, Merryweather-Clarke A T, Cadet E, Viprakasit V, Zaahl M G, Pointon J J, Weatherall D J, Rochette J
机构信息
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK.
出版信息
J Med Genet. 2004 Oct;41(10):721-30. doi: 10.1136/jmg.2004.020644.
Abstract
Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host's response to infection.
摘要
最近研究表明，铁调素基因HAMP和血色素沉着蛋白基因HJV的突变会导致青少年血色素沉着症（JH）。铁调素是一种抗菌肽，在调节肠道铁吸收中起关键作用。由于HFE和HJV基因发生突变，血色素沉着症患者的铁调素水平会降低。HFE和HAMP基因的双基因遗传突变可导致JH或遗传性血色素沉着症（HH），具体取决于HAMP基因突变的严重程度。在此，我们回顾这些研究结果，并讨论了解不同类型的血色素沉着症以及我们对铁代谢不断增加的认识如何有助于阐明宿主对感染的反应。
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