Iron is essential for life, but it can also lead to cell death. As a result, cells have evolved a robust and tightly regulated set of genes to maintain iron homeostasis.
Iron Metabolism Gene Mutations
Iron in the body is in a dynamic balance of constant absorption, utilization, storage and circulation. The maintenance of iron homeostasis is dependent on the complex and delicate regulation of the body, and its maintenance depends on the proper functioning of iron regulation mechanisms at all levels of the body.
Regulation of Hepcidin SynthesisRegulation of hepcidin expression [1].
Systemic Iron Homeostasis
The maintenance of systemic iron homeostasis is dependent on a small molecule protein secreted by hepatocytes, hepcidin, which binds to FPN on the surface of target cell membranes leading to internalisation and degradation of FPN, thereby reducing iron export into the circulation.
Regulation of Hepcidin Synthesis
TFR2: TFR2 is predominantly expressed in the liver and mice and humans with TFR2 mutations have severe haemochromatosis and very low levels of hepcidin, suggesting its important role in hepcidin regulation.
HFE: Mutations in the HFE gene, which is localised on human chromosome 1q21, can cause severe haemochromatosis and reduced hepcidin levels in HFE knockout mice. It was found that HFE may act by binding to TFR2 to form a complex.
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