海帕西啶铁调节和血色素沉着

血色素沉着是一种血浆铁沉积过多而导致的器官损伤性疾病,多种铁调节基因如HFE、HJV、HAMP和TfR2等的突变均可导致该病的发生,其中HAMP是最为重要的一种。HAMP基因编码一种名为海帕西啶的小肽,是小肠铁重吸收和巨噬细胞铁释放的负调节因子。海帕西啶含量的减少将导致血清铁过负荷和血色素沉着的发生,HFE、HJV和TfR2等基因可影响海帕西啶的表达,从而使海帕西啶成为血色素沉着的中央调节者。这些研究对血色素沉着发生机制的理解及其诊断和治疗具有重要意义。

Hepcidin iron metabolism and hemochromatosis

Hemochromatosis is a kind of organ-damaged disease which is caused by iron overload.Many genes related iron metabolism such as HFE,HJV,HAMP,TfR2 are mutated to result in hemochromatosis,and HAMP is the most important gene.HAMP encodes a kind of small peptide called hepcidin which is a negative regulator of iron absorbtion in the small intestine and iron release from macrophages.Decrease of hepcidin content can lead to serum iron load and hemochromatosis.Other genes such as HFE,HJV,TfR2 can affect expression of hepcidin,so hepcidin is a central regulator in hemochromatosis.These researches are very important for understanding of hemochromatosis mechanism and diagnosis and treatment of hemochromatosis.