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Recent Research on Vitamin D Metabolism in Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 May 2024 | Viewed by 54

Special Issue Editor

Dr. Arnaud Molin
E-Mail Website
Guest Editor
Department of Genetics, Caen University Hospital and Medical School, UR7450 Biotargen, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, 14000 Caen, France
Interests: gene; prenatal diagnosis; vitamin D; calcium; metabolism

Special Issue Information

Dear Colleagues,

Initially discovered owing to its deficiency in nutritional rickets and role in mineral metabolism homeostasis, vitamin D is a pleiotropic molecule of which the functions have been associated with cell proliferation and differentiation and is thus implicated in a wider range of diseases, e.g., cardiovascular diseases and cancer. Furthermore, years of research have allowed for switching from a single molecule concept to a complex set of metabolites produced from vitamin D3 (cholecalciferol) or D2 (ergocalciferol) thanks to several vitamin D-metabolizing enzymes, defining vitamin D metabolism. This metabolism allows for the modulation of vitamin D affinity to its receptor (CYP2R1, CYP27B1) and its final degradation to prevent vitamin D overactivity (CYP24A1, CYP3A4). The specific functions of most of these metabolites remain incompletely known, especially in the pathologic context, e.g., 24,25-dihydroxyvitamin D in fracture healing. Physiologic molecular mechanism of vitamin D metabolism regulation have been partially deciphered using transgenic mouse models and molecular tools such as liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) and chromatin immunoprecipitation sequencing (ChIP-Seq). The amount of knowledge previously gathered helped understand the pathophysiology of rare inborn errors of vitamin D metabolism caused by mutations in vitamin D metabolizing enzyme encoding genes. Nevertheless, more work seems necessary to understand the impact of common diseases on vitamin D metabolism.

This Special Issue gives insight into the evolving field of vitamin D metabolism deregulation associated with diseases, inborn errors of vitamin D metabolism and diseases which may affect vitamin D metabolism.

Dr. Arnaud Molin
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 submissions that pass pre-check are 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • vitamin D
  • vitamin D receptor
  • vitamin D metabolizing enzyme
  • vitamin D metabolism
  • vitamin D regulation
  • calcium–phosphate homeostasis
  • cell differenciation
  • cell proliferation

Published Papers

This special issue is now open for submission.
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