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Metabolic Bone Diseases: Molecular Mechanisms and Therapeutic Strategies
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Metabolic Bone Diseases: Molecular Mechanisms and Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: 20 April 2025 | Viewed by 3419

Special Issue Editors

Prof. Dr. Alberto Falchetti

E-Mail Website
Guest Editor
SC Endocrinolgy, Grande Ospedale Metroplitano Niguarda, 20162 Milan, Italy
Interests: metabolic bone diseases; paget’s disease of bone; rare metabolic bone diseases; familial and sporadic primary hyperparathyroidism
Dr. Iacopo Chiodini

E-Mail Website
Guest Editor
1. Department of Medical Biotechnology and Translational Medicine, University of Milan, 20122 Milan, Italy
2. Unit of Endocrinology, ASST Ospedale Niguarda, 20162 Milan, Italy
Interests: adrenal diseases; parathyroid diseases; osteoporosis; metabolic bone diseases; endocrine hypertension
Special Issues, Collections and Topics in MDPI journals
Dr. Elisa Cairoli

E-Mail Website
Guest Editor
Unit for Bone Metabolism Diseases and Diabetes, Istituto Auxologico Italiano, IRCCS, 20149 Milan, Italy
Interests: primary and secondary osteoporosis; endocrinopathies; hormone therapy; metabolic bone diseases; calcium-phosphorus metabolism disorders; rare skeletal diseases

Special Issue Information

Dear Colleagues,

Metabolic bone diseases encompass a wide range of clinical conditions that are both common, such as osteoporosis, primary and secondary hyperparathyroidism; and rare, such as oncogenic osteomalacia, osteogenesis imperfecta, hypophosphatasia and other genetic skeletal disorders.

This Special Issue aims to investigate the molecular mechanisms underlying the pathogenesis of metabolic bone diseases. Indeed, the identification of novel signaling pathways could unmask new drug targets which, in turn, could increase our therapeutic strategies. Moreover, the discovery of new mechanisms could help to predict the response to treatments and thus to personalize the clinical management of patients with metabolic bone disorders in the context of tailored medicine.

Therefore, this Special Issue will welcome the submission of both original articles, based on basic or translational research, and review papers, targeting the scientific innovations in the field of metabolic bone diseases.

Prof. Dr. Alberto Falchetti
Dr. Iacopo Chiodini
Dr. Elisa Cairoli
Guest Editors

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.

Keywords

  • bone metabolism
  • osteoclasts
  • osteoblasts
  • osteocytes
  • drug targets
  • signaling pathways

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Published Papers (2 papers)

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Review

26 pages, 2111 KiB  
Review
Bone Disease in Primary Hyperparathyroidism—Changes Occurring in Bone Metabolism and New Potential Treatment Strategies
by Mirella Iwanowska, Magdalena Kochman, Alicja Szatko, Wojciech Zgliczyński and Piotr Glinicki
Int. J. Mol. Sci. 2024, 25(21), 11639; https://doi.org/10.3390/ijms252111639 - 30 Oct 2024
Viewed by 1048
Abstract
Primary hyperparathyroidism (PHPT) is a common endocrinopathy, predominantly caused by a single parathyroid adenoma that is responsible for the excessive secretion of parathyroid hormone (PTH)—the hallmark of disease. Excess of this hormone causes remarkable changes in bone metabolism, including an increased level of [...] Read more.
Primary hyperparathyroidism (PHPT) is a common endocrinopathy, predominantly caused by a single parathyroid adenoma that is responsible for the excessive secretion of parathyroid hormone (PTH)—the hallmark of disease. Excess of this hormone causes remarkable changes in bone metabolism, including an increased level of bone remodeling with a predominance of bone resorption. Those changes lead to deterioration of bone structure and density, especially in cortical bone. The main treatment for PHPT is surgical removal of the adenoma, which normalizes PTH levels and terminates the progression of bone disease and leads to its regeneration. However, because not all the patients are suitable candidates for surgery, alternative therapies are needed. Current non-surgical treatments targeting bone disease secondary to PHPT include bisphosphonates and denosumab. Those antiresorptives prevent further bone loss, but they lack the ability to regenerate already degraded bone. There is ongoing research to find targeted drugs capable of halting resorption alongside stimulating bone formation. This review presents the advancements in understanding the molecular mechanisms responsible for bone disease in PHPT and assesses the efficacy of new potential therapeutic approaches (e.g., allosteric inhibitors of the PTH receptor, V-ATPase, or cathepsin inhibitors) aimed at mitigating bone loss and enhancing bone regeneration in affected patients. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: Molecular Mechanisms and Therapeutic Strategies)
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32 pages, 3404 KiB  
Review
Potential Targeting Mechanisms for Bone-Directed Therapies
by Betul Celik, Andrés Felipe Leal and Shunji Tomatsu
Int. J. Mol. Sci. 2024, 25(15), 8339; https://doi.org/10.3390/ijms25158339 - 30 Jul 2024
Cited by 1 | Viewed by 1661
Abstract
Bone development is characterized by complex regulation mechanisms, including signal transduction and transcription factor-related pathways, glycobiological processes, cellular interactions, transportation mechanisms, and, importantly, chemical formation resulting from hydroxyapatite. Any abnormal regulation in the bone development processes causes skeletal system-related problems. To some extent, [...] Read more.
Bone development is characterized by complex regulation mechanisms, including signal transduction and transcription factor-related pathways, glycobiological processes, cellular interactions, transportation mechanisms, and, importantly, chemical formation resulting from hydroxyapatite. Any abnormal regulation in the bone development processes causes skeletal system-related problems. To some extent, the avascularity of cartilage and bone makes drug delivery more challenging than that of soft tissues. Recent studies have implemented many novel bone-targeting approaches to overcome drawbacks. However, none of these strategies fully corrects skeletal dysfunction, particularly in growth plate-related ones. Although direct recombinant enzymes (e.g., Vimizim for Morquio, Cerezyme for Gaucher, Elaprase for Hunter, Mepsevii for Sly diseases) or hormone infusions (estrogen for osteoporosis and osteoarthritis), traditional gene delivery (e.g., direct infusion of viral or non-viral vectors with no modifications on capsid, envelope, or nanoparticles), and cell therapy strategies (healthy bone marrow or hematopoietic stem cell transplantation) partially improve bone lesions, novel delivery methods must be addressed regarding target specificity, less immunogenicity, and duration in circulation. In addition to improvements in bone delivery, potential regulation of bone development mechanisms involving receptor-regulated pathways has also been utilized. Targeted drug delivery using organic and inorganic compounds is a promising approach in mostly preclinical settings and future clinical translation. This review comprehensively summarizes the current bone-targeting strategies based on bone structure and remodeling concepts while emphasizing potential approaches for future bone-targeting systems. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: Molecular Mechanisms and Therapeutic Strategies)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Alterations in phosphate metabolism in patients with Klinefelter’s syndrome
Author: Indirli
Highlights: - Subjects with Klinefelter syndrome display persistent/recurrent hypophosphatemia in a proportion as high as 1 in 10. - An increased phosphate urinary loss may be responsible for this finding. - Hypophosphatemia is not associated with skeletal fragility, which is frequently observed in Klinefelter syndrome.

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