title: An overview of molecular basis of iron metabolism regulation and the associated pathologies.
abstract: Iron is essential for several vital biological processes. Its deficiency or overload drives to the development of several pathologies. To maintain iron homeostasis, the organism controls the dietary iron absorption by enterocytes, its recycling by macrophages and storage in hepatocytes. These processes are mainly controlled by hepcidin, a liver-derived hormone which synthesis is regulated by iron levels, inflammation, infection, anemia and erythropoiesis. Besides the systemic regulation of iron metabolism mediated by hepcidin, cellular regulatory processes also occur. Cells are able to regulate themselves the expression of the iron metabolism-related genes through different post-transcriptional mechanisms, such as the alternative splicing, microRNAs, the IRP/IRE system and the proteolytic cleavage. Whenever those mechanisms are disturbed, due to genetic or environmental factors, iron homeostasis is disrupted and iron related pathologies may arise.
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
authors.forename: Bruno
authors.initials: B
authors.lastname: Silva
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal. Electronic address: paula.faustino@insa.min-saude.pt.
authors.forename: Paula
authors.initials: P
authors.lastname: Faustino
mesh_terms: D000818:Animals; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000378:metabolism*; D033862:Iron-Binding Proteins / Q000235:genetics / Q000378:metabolism; D035925:Iron-Regulatory Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D033862:Iron-Binding Proteins; D035925:Iron-Regulatory Proteins; D007501:Iron
keywords: Hemochromatosis; Hepcidin; Iron; Iron deficiency; Post-transcriptional regulation