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Vitamin D Signaling in Human Health and Diseases

Special Issue Editor


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Guest Editor
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), F-67400 Illkirch, France
Interests: nuclear receptor; vitamin D pathophysiology; rare disease

Special Issue Information

Dear Colleagues,

We are thrilled to invite you to contribute to a Special Issue dedicated to “Vitamin D Signaling in Human Health and Diseases”. As the impact of vitamin D in regulating human health has gained significant attention in recent years, we seek to explore its multifaceted role in various physiological processes and its implication in human diseases.

This Special Issue aims to provide a comprehensive collection of research articles, reviews, and perspectives that explore the intricate mechanisms of vitamin D signaling. We strongly encourage submissions to cover a wide spectrum of topics, including molecular pathways, cellular responses, and clinical outcomes of vitamin D biology. Authors are encouraged to explore topics such as the role of vitamin D in immune modulation, bone health, cardiovascular function, cancer prevention, and its influence on diverse organ systems.

We look forward to receiving your manuscripts.

Dr. Daniela Rovito
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 250 words) can be sent to the Editorial Office for assessment.

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.

Keywords

  • vitamin D receptor
  • vitamin D
  • prevention
  • therapeutic potential
  • mineral homeostasis

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Published Papers (1 paper)

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Review

15 pages, 1075 KB  
Review
Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia
by Maria Stella Valle, Cristina Russo, Sofia Surdo, Maria Teresa Cambria, Mariachiara Campanella, Michele Tuttobene and Lucia Malaguarnera
Int. J. Mol. Sci. 2025, 26(21), 10756; https://doi.org/10.3390/ijms262110756 - 5 Nov 2025
Viewed by 688
Abstract
People with Down syndrome represent a highly vulnerable population, frequently showing vitamin D deficiency together with an elevated risk of metabolic and neuromuscular dysfunction. This susceptibility derives from several factors, including muscular hypotonia, excess body weight, thyroid abnormalities, and immune dysregulation. The coexistence [...] Read more.
People with Down syndrome represent a highly vulnerable population, frequently showing vitamin D deficiency together with an elevated risk of metabolic and neuromuscular dysfunction. This susceptibility derives from several factors, including muscular hypotonia, excess body weight, thyroid abnormalities, and immune dysregulation. The coexistence of these conditions compromises bone and muscle health, increases cardiometabolic risk, and reduces motor abilities and coordination, thereby predisposing individuals to falls, sarcopenia, sarcopenic obesity, and long-term disability. Vitamin D, traditionally known for its essential role in bone health, is now recognized as a pleiotropic hormone regulating immune responses, metabolic balance, and muscle performance. Its deficiency is increasingly linked to obesity, insulin resistance, diabetes mellitus, dyslipidemia, and metabolic syndrome. These adverse outcomes are mediated through mechanisms involving chronic inflammation, oxidative stress, mitochondrial impairment, and disrupted adipokine signaling. This review integrates current molecular, cellular, and clinical evidence on the multifaceted actions of vitamin D in Down syndrome. Particular emphasis is placed on its effects on insulin signaling, adipose tissue metabolism, inflammatory regulation, and muscle strength. Finally, vitamin D is discussed as a biomarker and therapeutic target to guide personalized interventions aimed at improving metabolic health, maintaining muscle function, and promoting long-term independence in this high-risk population. Full article
(This article belongs to the Special Issue Vitamin D Signaling in Human Health and Diseases)
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