Dipartimento di Scienze Biomediche e Biotecnologie-Università di Cagliari, Ospedale Regionale Microcitemie ASL Cagliari, Via Jenner s/n, Cagliari, Italy.
Expert Rev Hematol. 2010 Apr;3(2):205-16. doi: 10.1586/ehm.10.2.
The discovery of the peptide hormone hepcidin in 2001 has shed light on the control of iron metabolism. Studies in animal models over the past few years have demonstrated its key role in regulating iron homeostasis. It was found that hepcidin deficiency leads to iron overload, and that its overexpression leads to severe iron-deficiency anemia. Since then, other genes regulating hepcidin expression have been discovered, and defects in them mostly resulted in iron overload. In 2008, a new gene, TMPRSS6, was identified that encodes a negative regulator of hepcidin expression. This discovery has been of great relevance because TMPRSS6 is the first gene regulating hepcidin, mutations in which cause chronic iron-deficiency anemia. Recently, genome-wide association studies identified common TMPRSS6 variants associated with hematological parameters, suggesting that TMPRSS6 is crucial in the control of iron homeostasis and normal erythropoiesis.
2001 年发现的肽激素铁调素阐明了铁代谢的调控。过去几年在动物模型中的研究表明，它在调节铁稳态中起着关键作用。研究发现铁调素缺乏会导致铁过载，而其过度表达会导致严重的缺铁性贫血。从那时起，发现了其他调节铁调素表达的基因，它们的缺陷大多导致铁过载。2008 年，发现了一个新的基因 TMPRSS6，它编码铁调素表达的负调节剂。这一发现非常重要，因为 TMPRSS6 是第一个调节铁调素的基因，其突变会导致慢性缺铁性贫血。最近，全基因组关联研究确定了与血液学参数相关的常见 TMPRSS6 变体，表明 TMPRSS6 对铁稳态和正常红细胞生成的控制至关重要。
