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Hereditary hemochromatosis.
Annual Review of Nutrition ( IF 12.6 ) Pub Date : 2006-07-20 , DOI: 10.1146/annurev.nutr.26.061505.111226
Antonello Pietrangelo 1
Affiliation  

In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis. This review presents a concept of this disease that is based on this new knowledge and stems from the idea that, beyond their genetic diversities, all known hemochromatoses originate from the same metabolic error, the genetic disruption of human tendency for circulatory iron constancy. Hepcidin, the iron hormone, seems to hold a central pathogenic place in hemochromatosis, similar to insulin in diabetes: Genetically determined lack of hepcidin synthesis or activity may cause the disease.

中文翻译:

遗传性血色素沉着病。

近年来,与铁稳态有关的蛋白质数量急剧增加,并且已经明确了与组织铁超负荷相关的主要疾病的遗传原因。这些巨大的进步已经改变了我们看待铁相关疾病(尤其是血色素沉着病)的方式。这篇综述提出了基于这种新知识的这种疾病的概念,其源于这样的想法,即除了其遗传多样性外,所有已知的血色素都源自相同的代谢错误,即人类循环铁恒定的遗传破坏趋势。铁调素铁调素似乎在血色素沉着症中占有重要的病原体,类似于糖尿病患者的胰岛素:从遗传学上讲,铁调素合成或活性的缺乏可能导致该病。
更新日期:2019-11-01
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