血幼素研究进展

Advances in the Research of Hemojuvelin

血幼素(hemojuvelin,HJV)是新发现的一种铁代谢调节分子,基因定位于19q13。研究表明,其基因(HJV)突变是大多数幼年型血色病(juvenile hemochromatosis,JH,HFE2)发病的分子遗传学基础。HJV在机体铁稳态调控方面具有十分重要的作用,可能是上调Hepcidin表达的上游调节分子,两者参与共同的铁代谢途径。HJV有可能成为一种治疗机体铁代谢相关性疾病重要的靶分子。

Hemojuvelin ( HJV), the protein product of Hemojuvelin gene, is a new iron metabolism regulator. It was discovered in 2004 and was found to be localized in 19q13. Recent researches showed that HJV gene mutations were responsible for the most cases of juvenile hemochromatosis (JH, HFE2), a common recessive genetic disorder of iron metabolism in western countries. In addition, HJV might also play a very important role in the regulation of body iron homeostasis, possibly acting as an upstream modulator of hepcidin, the key negative iron regulatory hormone. Therefore, interventions of HJV expression or function might become a novel approach for the treatment of iron metabolism-related disorders.