Advances in the study of juvenile hemochromatosis

Abstract

Juvenile hemochromatosis is an autosomal recessive disease characterized by progressive tissue iron overload which leads to irreversible organ damage and even death.This disease is mainly caused by mutations in two genes:hemojuvelin gene and hepcidin gene.Different mutations have different phenotype.The two genes may act as modifying genes in HFE hemochromatosis.Hepcidin secreted by liver plays a central role in the regulation of iron homeostasis.HJV can act as a bone morphogenetic protein(BMP)co-receptor which is required for HJV to regulate hepcidin expression and iron homeostasis.Recent researches suggest that the bone morphogenetic protein(BMP)signaling pathway mediated by HJV is a significant mechanism for HJV to regulate hepcidin expression and iron homeostasis.HJV mutant impaires BMP signaling which results in hepcidin expression decrease and abnormal iron metabolism. Key words: Juvenile hemochromatosis; Hemojuvelin; Hepcidin; Bone morphogenetic protein; Signal pathway