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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) belonging to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 March 2026) | Viewed by 7810

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

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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 (4 papers)

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Research

14 pages, 958 KB  
Article
Bone Marker Proteins in Women With and Without Polycystic Ovary Syndrome
by Benjamin M. L. Atkin, Thozhukat Sathyapalan, Laura Dempsey, Stephen L. Atkin and Alexandra E. Butler
Int. J. Mol. Sci. 2025, 26(21), 10273; https://doi.org/10.3390/ijms262110273 - 22 Oct 2025
Viewed by 1179
Abstract
Hormonal alterations associated with polycystic ovary syndrome (PCOS) also impact bone metabolism, though it is unclear if this is bone-protective or not. Bone marker dysfunction has been reported in PCOS and appears to be associated with obesity. This study sought to determine whether [...] Read more.
Hormonal alterations associated with polycystic ovary syndrome (PCOS) also impact bone metabolism, though it is unclear if this is bone-protective or not. Bone marker dysfunction has been reported in PCOS and appears to be associated with obesity. This study sought to determine whether a panel of bone marker proteins (BMPs) would be dysregulated in PCOS stratified by BMI as a potential biomarker for bone in PCOS. In this exploratory cross-sectional study, plasma was collected from 234 women (137 with PCOS and 97 controls) from a biobank cohort and compared to a nonobese, non-insulin resistant population (24 with PCOS and 24 controls). Slow Off-rate Modified Aptamer (SOMA)-scan plasma protein measurement was undertaken for the following BMPs: sclerostin; Dickkopf-related protein-1; glycogen synthase kinase-3 alpha/beta; periostin; tumor necrosis factor ligand superfamily member 11; fibroblast growth factor 23; sphingosine kinase 1; sphingosine kinase 2; cathepsins A, B, D, E, G, L2, S and Z; parathyroid hormone; osteocalcin; tumor necrosis factor ligand superfamily member 11 (sRANKL) and interleukin-1 beta. Four BMPs differed in the PCOS cohort (whole set without matching for body mass index (BMI) or insulin resistance (IR)): periostin (p = 0.05), cathepsin L (p = 0.05) and osteocalcin (p = 0.02) decreased in PCOS, whilst cathepsin D (p = 0.02) increased; however, linear regression showed that only cathepsins D and L and osteocalcin differed. None of the BMPs differed in the nonobese women with and without PCOS, nor in obese PCOS and controls stratified by BMI greater than 30 kg/m2. In subgroup analysis, periostin (p = 0.001), sphingosine kinase 2 (p = 0.01) and cathepsin L (p = 0.001) were higher in obese versus nonobese PCOS (p = 0.01). Cathepsin Z (p = 0.02), sphingosine kinase 2 (p = 0.04) and lysosomal protective protein (p = 0.05) were lower in obese versus nonobese controls. Changes in BMPs indicative of impaired bone physiology were associated with BMI in both controls and PCOS, but did not differ between women with and without PCOS when BMI was matched. Hyperandrogenemia in PCOS did not affect BMP levels. Full article
(This article belongs to the Special Issue Molecular Insight into Bone Diseases)
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32 pages, 7358 KB  
Article
XYLT1 Deficiency of Human Mesenchymal Stem Cells: Impact on Osteogenic, Chondrogenic, and Adipogenic Differentiation
by Thanh-Diep Ly, Vanessa Schmidt, Matthias Kühle, Kai Oliver Böker, Bastian Fischer, Cornelius Knabbe and Isabel Faust-Hinse
Int. J. Mol. Sci. 2025, 26(15), 7363; https://doi.org/10.3390/ijms26157363 - 30 Jul 2025
Cited by 2 | Viewed by 1809
Abstract
Xylosyltransferase-I (XT-I) plays a crucial role in skeletal development and cartilage integrity. An XT-I deficiency is linked to severe bone disorders, such as Desbuquois dysplasia type 2. While animal models have provided insights into XT-I’s role during skeletal development, its specific effects on [...] Read more.
Xylosyltransferase-I (XT-I) plays a crucial role in skeletal development and cartilage integrity. An XT-I deficiency is linked to severe bone disorders, such as Desbuquois dysplasia type 2. While animal models have provided insights into XT-I’s role during skeletal development, its specific effects on adult bone homeostasis, particularly in human mesenchymal stem cell (hMSC) differentiation, remain unclear. This study investigates how XT-I deficiency impacts the differentiation of hMSCs into chondrocytes, osteoblasts, and adipocytes—key processes in bone formation and repair. The aim of this study was to elucidate for the first time the molecular mechanisms by which XT-I deficiency leads to impaired bone homeostasis. Using CRISPR-Cas9-mediated gene editing, we generated XYLT1 knockdown (KD) hMSCs to assess their differentiation potential. Our findings revealed significant disruption in the chondrogenic differentiation in KD hMSCs, characterized by the altered expression of regulatory factors and extracellular matrix components, suggesting premature chondrocyte hypertrophy. Despite the presence of perilipin-coated lipid droplets in the adipogenic pathway, the overall leptin mRNA and protein expression was reduced in KD hMSCs, indicating a compromised lipid metabolism. Conversely, osteogenic differentiation was largely unaffected, with KD and wild-type hMSCs exhibiting comparable mineralization processes, indicating that critical aspects of osteogenesis were preserved despite the XYLT1 deficiency. In summary, these results underscore XT-I’s pivotal role in regulating differentiation pathways within the bone marrow niche, influencing cellular functions critical for skeletal health. A deeper insight into bone biology may pave the way for the development of innovative therapeutic approaches to improve bone health and treat skeletal disorders. Full article
(This article belongs to the Special Issue Molecular Insight into Bone Diseases)
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15 pages, 1629 KB  
Article
Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel SERPINF1 Gene Variants
by Elena S. Merkuryeva, Tatyana S. Nagornova, Vladimir M. Kenis, Anna S. Deviataikina, Daria B. Akimova, Dmitry S. Buklaev, Ilya S. Dantsev, Aisluu O. Dulush, Ekaterina Y. Zakharova and Tatiana V. Markova
Int. J. Mol. Sci. 2025, 26(13), 6200; https://doi.org/10.3390/ijms26136200 - 27 Jun 2025
Cited by 2 | Viewed by 2257
Abstract
Osteogenesis imperfecta type VI is a rare autosomal recessive disorder characterized by bone fragility and defective mineralization, caused by pathogenic variants in the SERPINF1 gene. This study aimed to expand the understanding of OI type VI by analyzing clinical, radiological, and molecular findings [...] Read more.
Osteogenesis imperfecta type VI is a rare autosomal recessive disorder characterized by bone fragility and defective mineralization, caused by pathogenic variants in the SERPINF1 gene. This study aimed to expand the understanding of OI type VI by analyzing clinical, radiological, and molecular findings in four patients from three unrelated families. Genotyping revealed two novel SERPINF1 variants, c.185G>T (p.Gly62Val) and c.992_993insCA (p.Glu331Asnfs), in a compound heterozygous state in one patient, and a known pathogenic variant, c.261_265dup (p.Leu89Argfs26), in a homozygous form in three patients. Clinical manifestations included early-onset fractures, severe skeletal deformities, impaired mobility, and growth failure. Radiological assessments revealed multilevel and multiplanar bone deformities and metaphyseal widening. RNA analysis demonstrated that the c.992_993insCA variant results in a truncated PEDF protein without triggering nonsense-mediated decay. Population screening identified a carrier frequency of 0.0044 for the c.261_265dup variant, suggesting a founder effect in the Tuvinian population. These findings expand the mutational spectrum of the SERPINF1 gene and provide new insights into the phenotypic variability of OI type VI. Our results highlight the importance of genetic screening in isolated populations and emphasize the need for further research to develop more effective therapeutic approaches for patients with limited response to bisphosphonate therapy. Full article
(This article belongs to the Special Issue Molecular Insight into Bone Diseases)
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16 pages, 3161 KB  
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 1822
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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