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Molecular Insight into Bone Diseases
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Molecular Insight into Bone Diseases

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 April 2025 | Viewed by 1089

Special Issue Editor

Dr. Gaia Palmini

E-Mail Website
Guest Editor
Fondazione Italiana Ricerca sulle Malattie dell’Osso (F.I.R.M.O Onlus) Via San Gallo 123, 50129 Florence, Italy
Interests: bone regeneration; bone metabolism; rare bone diseases; primary bone tumors; non-coding RNAs

Special Issue Information

Dear Colleagues,

Our skeleton is continuously remodeled through a dynamic process in which we assist in balancing new bone formation and the resorption of damaged bone. All this process is mediated by the activity of osteoblasts, osteoclasts, and osteocytes. A misregulation of this process automatically generates a pathological condition characterized by the loss of function and strength of the skeletal system. There are several causes of bone disorders, and several are recognized bone diseases.

The aim of this Special Issue, “Molecular Insight into Bone Diseases”, is to focus on the latest studies regarding how the non-coding RNA molecules and several molecular pathways could be involved in the pathophysiology of common and rare bone disorders and to provide new knowledge on the possible new molecular systems involved in the altered bone mineralization process that characterized bone disorders.

Dr. Gaia Palmini
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.

Keywords

  • mineralization
  • bone diseases
  • rare bone diseases
  • non-coding RNAs
  • fibrous bone dysplasia
  • tumoral calcinosis
  • osteosarcoma
  • Ewing sarcoma
  • osteoporosis
  • Gorham-Stout disease

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Published Papers (1 paper)

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Research

16 pages, 3161 KiB  
Article
The Presence of the Endocannabinoid System in an In Vitro Model of Gorham-Stout Disease and Its Possible Role in the Pathogenesis
by Cinzia Aurilia, Gaia Palmini, Simone Donati, Irene Falsetti, Gianna Galli, Lorenzo Margheriti, Teresa Iantomasi, Arcangelo Moro and Maria Luisa Brandi
Int. J. Mol. Sci. 2025, 26(3), 1143; https://doi.org/10.3390/ijms26031143 - 28 Jan 2025
Viewed by 840
Abstract
Gorham-Stout syndrome (GSD), also known as disappearing bone disease, is an extremely rare bone disorder, characterized by a huge bone loss, which is followed by a lack of new matrix deposition and an excessive proliferation of both blood vessels and lymphatics. Unfortunately, the [...] Read more.
Gorham-Stout syndrome (GSD), also known as disappearing bone disease, is an extremely rare bone disorder, characterized by a huge bone loss, which is followed by a lack of new matrix deposition and an excessive proliferation of both blood vessels and lymphatics. Unfortunately, the biological causes of GSD are still unknown. Recent studies that have tried to understand the etiopathogenesis of GSD have been principally focused on the vascular and osteoclastogenic aspects, not considering the possibility of a lack of osteoblast function. Nowadays, a diagnosis is still difficult, and is often made by exclusion of the presence of other pathologies, as well as on radiological evidence, and finally confirmed by histological examination. Treatment also remains a critical issue for clinicians today, who mostly try to control the progression of the disease. Over the last two decades, clear evidence has emerged that the endocannabinoid system plays an important role in bone metabolism, leading scientists to hypothesize that it could be involved in physiological and pathological bone processes. In this work, we analyzed the presence of the ES in a primary cell line of human mesenchymal stem cells derived from a GSD patient for the first time, to understand if and how this complex network may play a role in the pathogenesis of the syndrome. Our preliminary results demonstrated that the ES is also present in the pathological tissue. Moreover, the qRT-PCR analysis showed an altered expression of the different ES components (i.e., CNR1, CNR2, TRPV1, and GPR55). We observed an upregulation of CNR1 and TRPV1 expression, while the opposite trend was noticed for CNR2 and GPR55 expression. Thus, these results could lead us to speculate that possible deregulation of the ES may play an important role in the lack of bone regeneration in GSD patients. However, further studies will be necessary to confirm the role of the ES in the progression of GSD and understand whether the natural components of Cannabis Sativa could play a therapeutic role in the treatment of the disease. Full article
(This article belongs to the Special Issue Molecular Insight into Bone Diseases)
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