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Pharmaceuticals
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Osteogenesis Imperfecta—Current and Future Therapies
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Osteogenesis Imperfecta—Current and Future Therapies

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Natural Products".

Deadline for manuscript submissions: closed (20 June 2024) | Viewed by 7314

Special Issue Editors

Dr. Anna Galicka

E-Mail Website
Guest Editor
Department of Medical Chemistry, Medical University of Bialystok, Mickiewicza 2A, 15-222 Bialystok, Poland
Interests: Bone and Extracellular Matrix Branch; Osteogenesis Imperfecta(OI); Collagen; Skin Fibroblasts; Natural Products
Dr. Katarzyna Gawron

E-Mail Website
Guest Editor
Department of Molecular Biology and Genetics, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Medykow 18, 40-752 Katowice, Poland
Interests: Genetics, connective tissues, hereditary connective tissue diseases, infectious diseases, periodontium, molecular mechanisms, aetiopathogenesis, virulence, cell therapy, genetic engineering
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Osteogenesis Imperfecta (OI) is a group of rare inherited skeletal disorders with a wide spectrum of phenotypes characterized primarily by bone fragility. Bone mineral density may be reduced in OI, but the key mechanism of bone fragility is reduced bone quality due to defects in bone matrix and mineralization. Initially, four types of disease caused by mutations in collagen type I genes, ranging from mild to lethal, were known. The continuous discovery of new mutations in non-collagen genes has resulted in a genotype-based classification system including more than 20 OI types. Despite tremendous progress in understanding the pathogenesis of OI, this has not been accompanied by progress in the treatment, which requires a multidisciplinary approach involving a pediatrician, surgeon, orthopedist, and physiotherapist. The main drugs used in the treatment of children and adults with OI are antiresorptive bisphosphonates. A new antiresorptive drug such as denosumab and bone anabolic agents such as teriparatide and inhibitors of sclerostin or TGF-β are under investigation for the treatment of OI. The main disadvantages of these therapies are relatively poor efficacy, no effect in some patients, or cytotoxic side effects. New directions of therapy with the use of chemical chaperone (4-phenylbutyric acid, 4-PBA) or natural products of plant origin (rosemary extract), aimed at ER stress, are promising.

In this Special Issue, original research and review articles describing the experience of the effectiveness of treatment with the use of currently tested drugs and the development of new therapeutic approaches are highly welcome.

Dr. Anna Galicka
Dr. Katarzyna Gawron
Guest Editors

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). 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

  • osteogenesis imperfecta (OI);
  • antiresorptive therapy (bisphosphonates, denosumab);
  • bone anabolic agents (teriparatide and inhibitors of sclerostin and TGF-β);
  • inductors of autophagy (4-PBA, natural products);
  • new approaches for OI treatment

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Published Papers (4 papers)

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Research

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21 pages, 2060 KiB  
Article
Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets
by Malwina Botor, Aleksandra Auguściak-Duma, Marta Lesiak, Łukasz Sieroń, Agata Dziedzic-Kowalska, Joanna Witecka, Marek Asman, Anna Madetko-Talowska, Mirosław Bik-Multanowski, Anna Galicka, Aleksander L. Sieroń and Katarzyna Gawron
Pharmaceuticals 2023, 16(10), 1414; https://doi.org/10.3390/ph16101414 - 4 Oct 2023
Viewed by 1978
Abstract
Osteogenesis imperfecta (OI) is a group of connective tissue disorders leading to abnormal bone formation, mainly due to mutations in genes encoding collagen type I (Col I). Osteogenesis is regulated by a number of molecules, including microRNAs (miRNAs), indicating their potential as [...] Read more.
Osteogenesis imperfecta (OI) is a group of connective tissue disorders leading to abnormal bone formation, mainly due to mutations in genes encoding collagen type I (Col I). Osteogenesis is regulated by a number of molecules, including microRNAs (miRNAs), indicating their potential as targets for OI therapy. The goal of this study was to identify and analyze the expression profiles of miRNAs involved in bone extracellular matrix (ECM) regulation in patients diagnosed with OI type I caused by mutations in COL1A1 or COL1A2. Primary skin fibroblast cultures were used for DNA purification and sequence analysis, followed by analysis of miRNA expression. Sequencing analysis revealed mutations of the COL1A1 or COL1A2 genes in all OI patients, including four previously unreported. Amongst the 40 miRNAs analyzed, 9 were identified exclusively in OI cells and 26 in both OI patients and the controls. In the latter case, the expression of six miRNAs (hsa-miR-10b-5p, hsa-miR-19a-3p, hsa-miR-19b-3p, has-miR-204-5p, has-miR-216a-5p, and hsa-miR-449a) increased, while four (hsa-miR-129-5p, hsa-miR-199b-5p, hsa-miR-664a-5p, and hsa-miR-30a-5p) decreased significantly in OI cells in comparison to their expression in the control cells. The identified mutations and miRNA expression profiles shed light on the intricate processes governing bone formation and ECM regulation, paving the way for further research and potential therapeutic advancements in OI and other genetic diseases related to bone abnormality management. Full article
(This article belongs to the Special Issue Osteogenesis Imperfecta—Current and Future Therapies)
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21 pages, 20855 KiB  
Article
Regulation of Adipose-Derived Stem Cell Activity by Melatonin Receptors in Terms of Viability and Osteogenic Differentiation
by Aleksandra Skubis-Sikora, Bartosz Sikora, Weronika Małysiak, Patrycja Wieczorek and Piotr Czekaj
Pharmaceuticals 2023, 16(9), 1236; https://doi.org/10.3390/ph16091236 - 1 Sep 2023
Cited by 1 | Viewed by 1307
Abstract
Melatonin is a hormone secreted mainly by the pineal gland and acts through the Mel1A and Mel1B receptors. Among other actions, melatonin significantly increases osteogenesis during bone regeneration. Human adipose-derived mesenchymal stem cells (ADSCs) are also known to have the potential to differentiate [...] Read more.
Melatonin is a hormone secreted mainly by the pineal gland and acts through the Mel1A and Mel1B receptors. Among other actions, melatonin significantly increases osteogenesis during bone regeneration. Human adipose-derived mesenchymal stem cells (ADSCs) are also known to have the potential to differentiate into osteoblast-like cells; however, inefficient culturing due to the loss of properties over time or low cell survival rates on scaffolds is a limitation. Improving the process of ADSC expansion in vitro is crucial for its further successful use in bone regeneration. This study aimed to assess the effect of melatonin on ADSC characteristics, including osteogenicity. We assessed ADSC viability at different melatonin concentrations as well as the effect on its receptor inhibitors (luzindole or 4-P-PDOT). Moreover, we analyzed the ADSC phenotype, apoptosis, cell cycle, and expression of MTNR1A and MTNR1B receptors, and its potential for osteogenic differentiation. We found that ADSCs treated with melatonin at a concentration of 100 µM had a higher viability compared to those treated at higher melatonin concentrations. Melatonin did not change the phenotype of ADSCs or induce apoptosis and it promoted the activity of some osteogenesis-related genes. We concluded that melatonin is safe, non-toxic to normal ADSCs in vitro, and can be used in regenerative medicine at low doses (100 μM) to improve cell viability without negatively affecting the osteogenic potential of these cells. Full article
(This article belongs to the Special Issue Osteogenesis Imperfecta—Current and Future Therapies)
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12 pages, 2502 KiB  
Article
Beneficial Effects of Zoledronic Acid on Tendons of the Osteogenesis Imperfecta Mouse (Oim)
by Antoine Chretien, Guillaume Mabilleau, Jean Lebacq, Pierre-Louis Docquier and Catherine Behets
Pharmaceuticals 2023, 16(6), 832; https://doi.org/10.3390/ph16060832 - 2 Jun 2023
Cited by 1 | Viewed by 1806
Abstract
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by spontaneous fractures, bone deformities, impaired growth and posture, as well as extra-skeletal manifestations. Recent studies have underlined an impairment of the osteotendinous complex in mice models of OI. The first objective [...] Read more.
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by spontaneous fractures, bone deformities, impaired growth and posture, as well as extra-skeletal manifestations. Recent studies have underlined an impairment of the osteotendinous complex in mice models of OI. The first objective of the present work was to further investigate the properties of tendons in the osteogenesis imperfecta mouse (oim), a model characterized by a mutation in the COL1A2 gene. The second objective was to identify the possible beneficial effects of zoledronic acid on tendons. Oim received a single intravenous injection of zoledronic acid (ZA group) at 5 weeks and were euthanized at 14 weeks. Their tendons were compared with those of untreated oim (oim group) and control mice (WT group) by histology, mechanical tests, western blotting and Raman spectroscopy. The ulnar epiphysis had a significantly lower relative bone surface (BV/TV) in oim than WT mice. The tendon of the triceps brachii was also significantly less birefringent and displayed numerous chondrocytes aligned along the fibers. ZA mice showed an increase in BV/TV of the ulnar epiphysis and in tendon birefringence. The tendon of the flexor digitorum longus was significantly less viscous in oim than WT mice; in ZA-treated mice, there was an improvement of viscoelastic properties, especially in the toe region of stress-strain curve, which corresponds to collagen crimp. The tendons of both oim and ZA groups did not show any significant change in the expression of decorin or tenomodulin. Finally, Raman spectroscopy highlighted differences in material properties between ZA and WT tendons. There was also a significant increase in the rate of hydroxyproline in the tendons of ZA mice compared with oim ones. This study highlighted changes in matrix organization and an alteration of mechanical properties in oim tendons; zoledronic acid treatment had beneficial effects on these parameters. In the future, it will be interesting to better understand the underlying mechanisms which are possibly linked to a greater solicitation of the musculoskeletal system. Full article
(This article belongs to the Special Issue Osteogenesis Imperfecta—Current and Future Therapies)
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Review

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21 pages, 1299 KiB  
Review
The Role of Mitochondrial Homeostasis in Mesenchymal Stem Cell Therapy—Potential Implications in the Treatment of Osteogenesis Imperfecta
by Qingling Guo, Qiming Zhai and Ping Ji
Pharmaceuticals 2024, 17(10), 1297; https://doi.org/10.3390/ph17101297 - 29 Sep 2024
Viewed by 1111
Abstract
Osteogenesis imperfecta (OI) is a hereditary disorder characterized by bones that are fragile and prone to breaking. The efficacy of existing therapies for OI is limited, and they are associated with potentially harmful side effects. OI is primarily due to a mutation of [...] Read more.
Osteogenesis imperfecta (OI) is a hereditary disorder characterized by bones that are fragile and prone to breaking. The efficacy of existing therapies for OI is limited, and they are associated with potentially harmful side effects. OI is primarily due to a mutation of collagen type I and hence impairs bone regeneration. Mesenchymal stem cell (MSC) therapy is an attractive strategy to take advantage of the potential benefits of these multipotent stem cells to address the underlying molecular defects of OI by differentiating osteoblasts, paracrine effects, or immunomodulation. The maintenance of mitochondrial homeostasis is an essential component for improving the curative efficacy of MSCs in OI by affecting the differentiation, signaling, and immunomodulatory functions of MSCs. In this review, we highlight the MSC-based therapy pathway in OI and introduce the MSC regulation mechanism by mitochondrial homeostasis. Strategies aiming to modulate the metabolism and reduce the oxidative stress, as well as innovative strategies based on the use of compounds (resveratrol, NAD+, α-KG), antioxidants, and nanomaterials, are analyzed. These findings may enable the development of new strategies for the treatment of OI, ultimately resulting in improved patient outcomes. Full article
(This article belongs to the Special Issue Osteogenesis Imperfecta—Current and Future Therapies)
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