Andreani Marco, Radio Francesca Clementina, Testi Manuela, De Bernardo Carmelilia, Troiano Maria, Majore Silvia, Bertucci Pierfrancesco, Polchi Paola, Rosati Renata, Grammatico Paola
Laboratorio di Immunogenetica e Biologia dei Trapianti, Fondazione IME, Policlinico Tor Vergata, Viale Oxford 81, Rome, Italy.
Haematologica. 2009 Sep;94(9):1293-6. doi: 10.3324/haematol.2009.006270.
Hepcidin is a 25-amino acid peptide, derived from cleavage of an 84 amino acid pro-peptide produced predominantly by hepatocytes. This molecule, encoded by the hepcidin antimicrobial peptide (HAMP) gene shows structural and functional properties consistent with a role in innate immunity. Moreover, as demonstrated in mice and humans, hepcidin is a major regulator of iron metabolism, and acts by binding to ferroportin and controlling its concentration and trafficking. In this study we investigated the influence that mutations in HAMP and/or hemocromatosis (HFE) genes might exert on iron metabolism in a group of poly-transfused thalassemic patients in preparation for bone marrow transplantation. Our results showed that the presence of the c.-582 A>G polymorphism (rs10421768) placed in HAMP promoter (HAMP-P) might play a role in iron metabolism, perhaps varying the transcriptional activation that occurs through E-boxes located within the promoter.
铁调素是一种由25个氨基酸组成的肽，由主要由肝细胞产生的84个氨基酸的前体肽切割而来。该分子由铁调素抗菌肽（HAMP）基因编码，其结构和功能特性表明它在先天免疫中发挥作用。此外，正如在小鼠和人类中所证实的那样，铁调素是铁代谢的主要调节因子，它通过与铁转运蛋白结合并控制其浓度和运输来发挥作用。在本研究中，我们调查了HAMP和/或血色素沉着症（HFE）基因的突变对一组准备进行骨髓移植的多次输血的地中海贫血患者铁代谢可能产生的影响。我们的结果表明，位于HAMP启动子（HAMP-P）中的c.-582 A>G多态性（rs10421768）的存在可能在铁代谢中起作用，也许会改变通过启动子内的E-boxes发生的转录激活。
