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Molecular Mechanisms of Musculoskeletal Involvement in Rare Diseases
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Molecular Mechanisms of Musculoskeletal Involvement in Rare 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: closed (30 May 2025) | Viewed by 3361

Special Issue Editor

Dr. Gianluigi Pasta

E-Mail Website
Guest Editor
Department of Orthopaedics and Traumatology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, 27100 Pavia, Italy
Interests: hemophilic arthropathy; orthopedic surgery; joint replacement; motion analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases are heterogeneous conditions that affect < one in 2000 individuals and most of them (80%) have a genetic component. Currently, 6000 to 8000 rare diseases have been identified and new conditions are regularly being described in the literature. Numerous rare diseases involve musculoskeletal system causing disability to patients and greatly worsening their quality of life. The investigation of pathogenesis of joint and bone involvement would give the chance to improve our knowledge in this field and help to find new therapeutic solutions that will improve patient’s life.Moreover, the study of molecular pathways involved in rare syndromes have been often useful in order to clarify several mechanisms of common disorders for general population and new therapeutic options.

This Special Issue aims to enhance the importance of the molecular mechanisms that involve the musculoskeletal system in people affected by rare diseases. We’ll value all those scientific works that include molecular results or/and review the topic focusing on molecular pathways involved in joint degeneration and bone involvement.

Dr. Gianluigi Pasta
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

  • rare diseases
  • molecular pathways
  • musculoskeletal system
  • bone involvement
  • joint degeneration

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Published Papers (2 papers)

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Research

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13 pages, 1005 KiB  
Article
Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance
by Beatrice Hanusch, Anne Schlegtendal, Thomas Lücke and Kathrin Sinningen
Int. J. Mol. Sci. 2025, 26(12), 5776; https://doi.org/10.3390/ijms26125776 - 16 Jun 2025
Viewed by 354
Abstract
Pathogenic variants in the phenylalanine hydroxylase gene can result in phenylalanine (Phe) accumulation leading to phenylketonuria (PKU; OMIM #261600), a metabolic disease diagnosed in newborn screening. Early treatment with a Phe-restricted diet prevents severe mental retardation. Next to several other health complaints, patients [...] Read more.
Pathogenic variants in the phenylalanine hydroxylase gene can result in phenylalanine (Phe) accumulation leading to phenylketonuria (PKU; OMIM #261600), a metabolic disease diagnosed in newborn screening. Early treatment with a Phe-restricted diet prevents severe mental retardation. Next to several other health complaints, patients with PKU present with low bone mineral density (BMD) more often than the general population. The etiology of the phenotype is not yet fully understood, and current research focuses on improving special medical foods and changes in osteoclasts (OC) and osteoblasts. Analysis of osteoclastic and oxidative stress control gene expression next to the simple number of OC developing from peripheral blood mononucleated cells (PBMCs) in association with dietary compliance and BMD was therefore part of our analysis. PBMCs were obtained from 17 adults with PKU and 17 age- and sex-matched controls on the same day. PBMCs were differentiated into osteoclasts (OC, Trap-positive multi-nucleated cells (≥3 nuclei)) for 14 days by adding human macrophage colony-stimulating factor (MCSF) and receptor activator of NF-κB Ligand (RANKL). Subsequently, quantitative real-time PCR was performed on OC function and oxidative stress control. Data on dietary compliance during the previous 12 months and 5 years and BMD were collected. PBMCs from adults with PKU and controls were differentiated into comparable numbers of OC (PKU: 53 [17–87] vs. controls: 39 [19–52], p = 0.381) without differences in mRNA expression of genes related to OC function and oxidative stress control. Dietary compliance in short-term and mid-term was not associated with OC number or mRNA expression, but CTSK negatively correlated with BMD T-Score in the hips of adults with PKU (Spearman r = −0.518, p = 0.040). Osteoclastogenesis was not changed in adult patients with PKU, nor were most mRNA expressions of OC marker genes or those of oxidative stress control. However, 44% of patients presented with BMD below −1 in their hips, and the OC of these tended to express higher CTSK (above −1: 0.2 [0.2–0.8] vs. below −1: 0.9 [0.6–3.4], p = 0.055). Thus, alternative regulatory mechanisms of OC activity may play a role in the development of low BMD in patients with PKU. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Musculoskeletal Involvement in Rare Diseases)
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Review

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11 pages, 1149 KiB  
Review
Bone and Hemophilia: The Role of Factor VIII—Systematic Review
by Micaela Berni, Antonella Forlino, Laura Caliogna, Liliana De Felice, Matteo Nicola Dario Di Minno, Eugenio Jannelli, Mario Mosconi, Francesca Tonelli, Camilla Torriani and Gianluigi Pasta
Int. J. Mol. Sci. 2025, 26(5), 2172; https://doi.org/10.3390/ijms26052172 - 28 Feb 2025
Viewed by 2256
Abstract
Factor VIII (FVIII) is involved in several molecular pathways and biological processes; indeed, it has a role in the coagulative cascade, cardiovascular disease, hypertension, brain and renal function, cancer incidence and spread, macrophage polarization, and angiogenesis. Hemophilic patients usually present an increase in [...] Read more.
Factor VIII (FVIII) is involved in several molecular pathways and biological processes; indeed, it has a role in the coagulative cascade, cardiovascular disease, hypertension, brain and renal function, cancer incidence and spread, macrophage polarization, and angiogenesis. Hemophilic patients usually present an increase in fracture risk, bone resorption, and an excess of osteoporosis as compared to healthy individuals. Several studies have tried to clarify their etiology but unfortunately it is still unclear. This review focuses on the role of FVIII in bone biology by summarizing all the knowledge present in the literature. We carried out a systematic review of the available literature following the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Several studies demonstrated that FVIII is involved in different molecular pathways interfering with bone physiology; it exerts interesting effects on OPG/RANK/RANKL pathways and thrombin/PAR1 pathways. These data confirm a relationship between FVIII and bone metabolism; however, there are still many aspects to be clarified. This review highlights the role of the coagulation factor FVIII in bone metabolism, suggesting new hypotheses for future studies both in vitro and in vivo to better understand the important pleiotropic role of FVIII and hopefully to develop new therapeutic agents for skeletal diseases. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Musculoskeletal Involvement in Rare Diseases)
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