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
Interests: gene; prenatal diagnosis; vitamin D; calcium; metabolism
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
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- vitamin D
- vitamin D receptor
- vitamin D metabolizing enzyme
- vitamin D metabolism
- vitamin D regulation
- calcium–phosphate homeostasis
- cell differenciation
- cell proliferation