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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: 30 May 2025 | Viewed by 1925

Special Issue Editor

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

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Keywords

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

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Published Papers (1 paper)

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Review

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 1368
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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