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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: closed (31 October 2024) | Viewed by 1357

Special Issue Editor


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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

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Keywords

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

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Published Papers (1 paper)

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Review

15 pages, 1355 KiB  
Review
Exploring the Role of Vitamin D, Vitamin D-Dependent Proteins, and Vitamin D Receptor Gene Variation in Lung Cancer Risk
by Tudor Ciocarlie, Alexandru Cătălin Motofelea, Nadica Motofelea, Alina Gabriela Dutu, Alexandra Crăciun, Dan Costachescu, Ciprian Ioan Roi, Ciprian Nicolae Silaghi and Andreea Crintea
Int. J. Mol. Sci. 2024, 25(12), 6664; https://doi.org/10.3390/ijms25126664 - 17 Jun 2024
Cited by 1 | Viewed by 1073
Abstract
Lung cancer has an unfavorable prognosis with a rate of low overall survival, caused by the difficulty of diagnosis in the early stages and resistance to therapy. In recent years, there have been new therapies that use specific molecular targets and are effective [...] Read more.
Lung cancer has an unfavorable prognosis with a rate of low overall survival, caused by the difficulty of diagnosis in the early stages and resistance to therapy. In recent years, there have been new therapies that use specific molecular targets and are effective in increasing the survival chances of advanced cancer. Therefore, it is necessary to find more specific biomarkers that can identify early changes in carcinogenesis and allow the earliest possible treatment. Vitamin D (VD) plays an important role in immunity and carcinogenesis. Furthermore, the vitamin D receptor (VDR) regulates the expression of various genes involved in the physiological functions of the human organism. The genes encoding the VDR are extremely polymorphic and vary greatly between human populations. To date, there are significant associations between VDR polymorphism and several types of cancer, but the data on the involvement of VDR polymorphism in lung cancer are still conflicting. Therefore, in this review, our aim was to investigate the relationship between VDR single-nucleotide polymorphisms in humans and the degree of risk for developing lung cancer. The studies showcased different gene polymorphisms to be associated with an increased risk of lung cancer: TaqI, ApaI, BsmI, FokI, and Cdx2. In addition, there is a strong positive correlation between VD deficiency and lung cancer development. Still, due to a lack of awareness, the assessment of VD status and VDR polymorphism is rarely considered for the prediction of lung cancer evolution and their clinical applicability, despite the fact that studies have shown the highest risk for lung cancer given by TaqI gene polymorphisms and that VDR polymorphisms are associated with more aggressive cancer evolution. Full article
(This article belongs to the Special Issue Recent Research on Vitamin D Metabolism in Disease)
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