Research on Iron Metabolism and Related Diseases

Dear Colleagues,

Iron is an important micronutrient that is most known for being the cornerstone of the hematopoietic process. However, the role of iron expands beyond red blood cell production as it is part of iron-containing proteins, in the form of heme groups, Fe/S clusters, or directly as iron proteins. Therefore, iron is involved in many other vital cellular processes and responses, such as oxidation–reduction reactions, mitochondrial respiratory chain, neurotransmitters production, DNA/RNA synthesis, inflammation, infection, and so on.

In mammals, iron levels are sensed and regulated by the liver-secreted hormone hepcidin. At a cellular level, iron homeostasis is controlled by IRP1 and IRP2, two iron-sensing proteins that control the expression of the genes involved in iron uptake, storage, and utilization at a post-transcriptional level.

Iron metabolism dysregulation leads to iron-related diseases including different forms of acquired or inherited anemias, i.e., myelodysplastic syndrome, congenital sideroblastic anemia, congenital dyserythropoietic anemia, atransferrinemia, aceruloplasminemia, IRIDA (iron-refractory iron deficiency anemia), and other types of iron-related anemias; acquired or hereditary iron-overload conditions, such as hereditary hemochromatosis, iron-related neurodegenerative diseases, or ataxias; and diseases involving dysfunctional Fe/S cluster proteins, such as multiple mitochondrial dysfunction syndromes.

Great efforts have been made to reveal the genetic causes of most of these diseases, as well as their underlying molecular regulatory mechanisms. In the future, we will certainly maintain this progress, uncovering additional novel genes involved in iron-related diseases and advancing in our knowledge concerning iron regulation in health and disease, all of which will significantly contribute to the development of new therapies.

This Special Issue “Research on Iron Metabolism and Related Diseases” is focused on contributing works including genetic, molecular, bioinformatics, and clinical studies on iron homeostasis, genetic iron regulation, and iron-related diseases. With the help of your contribution, we hope to reach a better understanding of the normal and aberrant regulation of iron homeostasis and its diseases, leading to better diagnostics and treatments for affected patients with these conditions.

Prof. Dr. Mayka Sánchez Fernández
Guest Editor

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