Disease relevance of Hfe2

• Juvenile hemochromatosis is a severe hereditary iron overload disease caused by mutations in the HJV (hemojuvelin) and HAMP (hepcidin) genes [1].
• Studies in both C2C12 (a mouse myoblast cell line) and HepG2 (a human hepatoma cell line) cells showed active HJV shedding, implying that both skeletal muscle and liver could be the source of serum HJV [2].

High impact information on Hfe2

• Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload [3].
• Recently, it has been suggested that hepcidin, a peptide involved in iron homeostasis, is regulated by bone morphogenetic proteins (BMPs), apparently by binding to hemojuvelin (Hjv) as a coreceptor and signaling through Smad4 [4].
• Hamp regulation due to iron did not appear dependent on transcription-level changes of the murine homolog of Hemojuvelin (Rgmc) [5].
• HJV is highly expressed in both skeletal muscle and liver [6].
• RESULTS: Iron initially accumulated in spleen macrophages but with subsequent increase in macrophage ferroportin and ferritin expression its content in the spleen decreased while a progressive storage of iron occurred within hepatocytes which was paralleled by a significant increase in hepcidin and hemojuvelin expression [7].

Anatomical context of Hfe2

• INTERPRETATION AND CONCLUSIONS: The facts that HJV protein is expressed in the liver and mutations in the HJV gene induce hepatic iron accumulation point to a possibility that HJV protein may modulate iron transport in hepatocytes [8].
• RESULTS: Human HJV mRNA expression was detected in the liver, heart, esophagus, pancreas, descending colon, ileocecum and skeletal muscle [8].

Other interactions of Hfe2

• Hfe, Rgmc and Tfr2 expression was not influenced by phlebotomy [9].
• Expression studies of neogenin and its ligand hemojuvelin in mouse tissues [1].

Analytical, diagnostic and therapeutic context of Hfe2

• We also studied the expression of HJV protein in mouse tissues using Western blotting [8].
• A previous report based on Northern blotting showed human HJV mRNA expression only in the skeletal muscle, liver and heart [8].

References