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Musculoskeletal Diseases: Advances in Molecular Mechanisms and Therapeutic Approaches

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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: 20 April 2026 | Viewed by 8045

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Special Issue Editor

Prof. Dr. Jung Eun Kim

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Guest Editor

1. Department of Molecular Medicine, Cell and Matrix Research Institute, School of Medicine, Kyungpook National University, Daegu 41931, Republic of Korea
2. Department of Biomedical Science, Kyungpook National University, Daegu 41566, Republic of Korea
Interests: osteoblast/osteoclast differentiation; bone remodeling; bone development and homeostasis; bone metastasis; musculoskeletal diseases
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Special Issue Information

Dear Colleagues,

Musculoskeletal diseases encompass a wide range of pathologic conditions affecting bone, joint, muscle, and connective tissues, impacting individuals of all genders and races. The treatment options for these diseases have significantly advanced in recent decades. However, the molecular mechanisms underlying these conditions remain largely unresolved, and a deeper understanding of their pathophysiology is essential for developing more effective therapies. This Special Issue will highlight new insights and breakthroughs in the molecular mechanisms of musculoskeletal diseases, address persistent challenges, and explore emerging therapeutic approaches, all with the ultimate goal of improving clinical outcomes. We encourage submissions focusing on fundamental molecular pathways, novel therapeutic targets, translational approaches, and innovative methodologies that further our understanding of musculoskeletal pathophysiology.

Prof. Dr. Jung Eun Kim
Guest Editor

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Keywords

bone
muscle
tendon
cartilage
osteoporosis
sarcopenia
tendinopathy
osteoarthritis
musculoskeletal pathophysiology

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Published Papers (4 papers)

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Research

Jump to: Review

14 pages, 5181 KB

Open AccessArticle

TGFBI Facilitates Myogenesis and Limits Fibrosis in Mouse Skeletal Muscle Regeneration

by Na Rae Park, So-Yeon Jin, Soon-Young Kim, Seung-Hoon Lee, In-San Kim and Jung-Eun Kim

Int. J. Mol. Sci. 2025, 26(18), 9042; https://doi.org/10.3390/ijms26189042 - 17 Sep 2025

Viewed by 3842

Abstract

Skeletal muscles are essential for movement and support but are vulnerable to injury. Muscle regeneration relies on the extracellular matrix (ECM), which regulates key cellular processes. Transforming growth factor β-induced (TGFBI), an ECM component involved in cell adhesion, migration, and tissue development, has not been investigated in skeletal muscle regeneration. Here, we examined the role of TGFBI using Tgfbi knockout (KO) mice and C2C12 myoblasts. In vitro, C2C12 cells were treated with recombinant TGFBI following snake venom (SV)-induced injury, and myogenic differentiation and fusion were evaluated by quantitative real-time PCR (qRT-PCR) and Western blotting. In vivo, acute muscle injury was induced by SV injection into the tibialis anterior muscles of 12-week-old wild-type and Tgfbi KO mice, with regeneration assessed by histology and qRT-PCR. TGFBI was absent in uninjured muscle and C2C12 cells but was upregulated after injury. Recombinant TGFBI enhanced myogenic differentiation and restored SV-induced downregulation of myogenic and fusion markers. Although phenotypically normal under physiological conditions, Tgfbi KO mice exhibited impaired regeneration, characterized by persistent immature myofibers, elevated inflammatory cytokines, reduced myogenic marker expression, and increased fibrosis. These findings reveal TGFBI as a key regulator of skeletal muscle repair and a potential therapeutic target for muscle-related disorders. Full article

(This article belongs to the Special Issue Musculoskeletal Diseases: Advances in Molecular Mechanisms and Therapeutic Approaches)

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12 pages, 1916 KB

Open AccessArticle

Effects of Methotrexate and Tofacitinib on Mitochondrial Function and Oxidative Stress in Human Synovial Cells In Vitro

by Valentina Mihaylova, Desislav Tomov, Rositsa Karalilova, Zguro Batalov, Anastas Batalov, Victoria Sarafian and Maria Kazakova

Int. J. Mol. Sci. 2025, 26(17), 8173; https://doi.org/10.3390/ijms26178173 - 22 Aug 2025

Cited by 1 | Viewed by 1101

Abstract

Rheumatoid arthritis (RA) is an autoimmune disease affecting the synovium. Mitochondrial dysfunction is considered a critical factor in the pathogenesis of RA. The aim of the study was to determine the effect of methotrexate and tofacitinib on mitochondrial function and oxidative stress in an in vitro study on the model synovial cell line SW982. TNF-alpha-stimulated SW982 cells, as well as control untreated cells, were incubated with methotrexate and tofacitinib. A metabolic test was performed to assess mitochondrial function. The oxidative stress generated after the application of the therapeutics was determined by a chromatographic analysis. The results obtained showed an increase in ATP levels (p < 0.0001) and a decrease in proton leak (p < 0.0003) after treatment with tofacitinib. The opposite trend was observed—reduced ATP production (p < 0.0096) and increased levels of proton leak (p < 0.0001)—after treatment with methotrexate. A two-fold increase in 8-ISOPGF2A was measured in comparison to TNF-alpha-stimulated and untreated cells. The dynamics of mitochondrial activity and oxidative stress were monitored in a certified RA model cell line after the administration of two different therapeutics. Methotrexate was found to induce mitochondrial dysfunction and oxidative stress in vitro, while tofacitinib partially improved mitochondrial parameters. Full article

(This article belongs to the Special Issue Musculoskeletal Diseases: Advances in Molecular Mechanisms and Therapeutic Approaches)

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Review

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63 pages, 4242 KB

Open AccessReview

A Multidimensional Definition of Pre-Osteoarthritis: Toward 21st-Century Subclinical Detection and Targeted Intervention

by Eloy del Río

Int. J. Mol. Sci. 2025, 26(23), 11447; https://doi.org/10.3390/ijms262311447 - 26 Nov 2025

Viewed by 850

Abstract

Osteoarthritis (OA) is a leading cause of pain, disability, and healthcare utilization worldwide, yet clinical diagnosis commonly occurs after irreversible structural damage, limiting opportunities for prevention. Advances in molecular profiling, quantitative imaging, biomechanics, and longitudinal cohort studies have identified a reproducible preclinical interval, termed pre-osteoarthritis (pre-OA), during which molecular, compositional, and biomechanical perturbations emerge long before persistent symptoms or radiographic changes. The recognition of pre-OA as a distinct pathophysiologically meaningful stage supports the possibility of earlier targeted interception. Cross-disciplinary studies have consistently reported very early cartilage matrix alterations, pro-catabolic and low-grade inflammatory signatures, and biomechanical and biochemical marker shifts, indicating a critical detection window. Building on these findings, I propose a pheno-endotype-oriented framework to align emerging detection strategies with interventions matched to underlying mechanisms, including lifestyle modification, metabolic modulation, and candidate disease-modifying therapies. These conceptual models are presented for evaluation by clinicians, researchers, and healthcare decision-makers. Translation into practice remains constrained by heterogeneous case definitions, lack of validated thresholds, variability in assays and imaging standards, and limited prospective trials addressing early disease diagnosis. Addressing these barriers will require harmonized consensus criteria, standardized analytic protocols, prospective validation cohorts enriched with high-risk populations, and adaptive biomarker-driven trial designs. Reconceptualizing OA as a continuum with an identifiable preclinical stage provides a foundation for earlier personalized interception strategies with the potential to alter the natural history of the disease and reduce its global burden. If translated successfully, early identification and targeted interception of pre-OA could transform OA from an inevitable consequence of aging into a largely preventable and manageable condition, which would be a paradigm shift with major clinical and public health implications. Full article

(This article belongs to the Special Issue Musculoskeletal Diseases: Advances in Molecular Mechanisms and Therapeutic Approaches)

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21 pages, 663 KB

Open AccessReview

Injuries in Artistic Gymnastics: Etiology, Prevention Strategies, and Multifactorial Perspectives—A Systematic Review

by Raid Mekić, Vladan Milić, Oliver Radenković, Ilma Čaprić, Saša Veličković, Rifat Mujanović, Emir Biševac, Elvis Mahmutović, Zerina Salihagić, Aldina Ajdinović, Izet Kahrović, Benin Murić, Jovan Cvejić, Zoran Mojsilović and Igor Stanojević

Int. J. Mol. Sci. 2025, 26(22), 10929; https://doi.org/10.3390/ijms262210929 - 11 Nov 2025

Cited by 1 | Viewed by 1793

Abstract

Artistic gymnastics is one of the most physically demanding sports, characterized by a high incidence of both acute and chronic injuries. Although previous research has primarily focused on biomechanical and training-related factors, the multifactorial etiology of injuries—including molecular and genetic aspects—remains insufficiently explored. This systematic review aimed to synthesize current evidence on the causes, mechanisms, and prevention of injuries in artistic gymnastics, with particular emphasis on biomechanical, molecular, and genetic determinants of injury risk and athletic performance. The review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines and was registered in the PROSPERO database (Registration No: CRD420251167521). Electronic databases (PubMed, KoBSON, and Google Scholar) were searched for studies published between 2015 and 2025 using the keywords “gymnastics injuries,” “overuse injuries,” “injury prevention,” “biomechanics,” “IL-6,” “TNF-α,” and “miRNA biomarkers.” Nineteen studies met the inclusion criteria and were analyzed based on injury incidence, localization, mechanisms, and molecular and genetic associations. The majority of injuries were localized in the joints of both upper and lower extremities, particularly during puberty and at higher competitive levels. Repetitive loading, improper technique, and insufficient recovery were identified as the main etiological factors. Molecular biomarkers such as IL-6, TNF-α, and miRNAs (miR-155, miR-146a) were found to play key roles in inflammatory responses, while genetic polymorphisms including ACTN3 R577X, ESR1 rs2234693, and CYP19A1 rs936306 were associated with flexibility, explosive strength, and susceptibility to injury. Injury prevention in artistic gymnastics requires a personalized and multidisciplinary approach that integrates biomechanical, clinical, molecular, and genetic data. Incorporating molecular and genetic profiling into training and rehabilitation programs may enhance early detection of overuse conditions and optimize both health and performance outcomes in gymnasts. Full article

(This article belongs to the Special Issue Musculoskeletal Diseases: Advances in Molecular Mechanisms and Therapeutic Approaches)

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