Special Issue "Genetic Research of Iron Homeostasis and Related Diseases"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (21 September 2021).

Special Issue Editor

Prof. Dr. Mayka Sánchez Fernández
E-Mail Website
Guest Editor
Departamento de Ciencias Básicas de Ciencias de la Salud, Universitat Internacional de Catalunya, Immaculada, 22 Barcelona 08127, Spain
Interests: iron metabolism; iron regulation; iron diseases; RNA biology; human genetics

Special Issue Information

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 cells 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 anaemias, 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 reveale 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 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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Iron homeostasis
  • Gene regulation
  • Gene expression
  • Heme proteins
  • Fe/S cluster
  • Iron metabolism
  • Anemia
  • Iron-overload diseases

Published Papers (1 paper)

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Conservation in the Iron Responsive Element Family
Genes 2021, 12(9), 1365; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12091365 - 30 Aug 2021
Viewed by 353
Iron responsive elements (IREs) are mRNA stem-loop targets for translational control by the two iron regulatory proteins IRP1 and IRP2. They are found in the untranslated regions (UTRs) of genes that code for proteins involved in iron metabolism. There are ten “classic” IRE [...] Read more.
Iron responsive elements (IREs) are mRNA stem-loop targets for translational control by the two iron regulatory proteins IRP1 and IRP2. They are found in the untranslated regions (UTRs) of genes that code for proteins involved in iron metabolism. There are ten “classic” IRE types that define the conserved secondary and tertiary structure elements necessary for proper IRP binding, and there are 83 published “IRE-like” sequences, most of which depart from the established IRE model. Here are structurally-guided discussions regarding the essential features of an IRE and what is important for IRE family membership. Full article
(This article belongs to the Special Issue Genetic Research of Iron Homeostasis and Related Diseases)
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