跨膜丝氨酸蛋白酶6与贫血

Transmembrane serine protease 6 (TMPRSS6) and anemia

跨膜丝氨酸蛋白酶6基因(transmembrane serine protease 6 gene,TMPRSS6)是一种主要在肝脏中表达,编码II型跨膜丝氨酸蛋白酶的基因,它的突变可导致严重贫血的发生。TMPRSS6突变后可造成铁调节激素肝杀菌肽在机体缺铁状态下也表达增加,这造成小肠对食物铁的吸收减少而出现缺铁性贫血。TMPRSS6突变与贫血关系的发现一方面有利于对铁代谢调节机制的深入理解,另一方面也为铁代谢紊乱相关疾病如贫血等的治疗带来了希望。

TMPRSS6（transmembrane serine protease 6）, which is expressed primarily in liver, encodes a type II transmembrane serine protease. The mutation of TMPRSS6 can cause severe iron deficiency anemia. The mutation of TMPRSS6 is accompanied by a marked up-regulation of iron regulatory hormone hepcidin under conditions of iron deficiency, which decreases dietary iron uptake. The discovery of the mutation of TMPRSS6 and anemia is beneficial to the understanding of iron metabolism and treatment for related diseases.