Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
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DOI：
10.1038/ng.130
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发表时间：
2008-05-01
期刊：
影响因子：
30.8
通讯作者：
Fleming, Mark D.
中科院分区：
文献类型：
--
作者：
Finberg, Karin E.;Heeney, Matthew M.;Fleming, Mark D.
缺铁通常归因于慢性失血或饮食摄入不足。在这里，我们发现口服铁治疗难耐的缺铁性贫血可能是由TMPRSS6的种系突变引起的，TMPRSS6编码肝脏产生的II型跨膜丝氨酸蛋白酶，该蛋白酶调节全身铁调节激素hepcidin的表达。这些发现表明，TMPRSS6对人体正常的全身铁稳态至关重要。
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.