Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Abstract Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03040-0 |
| _version_ | 1827326245240569856 |
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| author | Anna Szoszkiewicz Ewelina Bukowska-Olech Aleksander Jamsheer |
| author_facet | Anna Szoszkiewicz Ewelina Bukowska-Olech Aleksander Jamsheer |
| author_sort | Anna Szoszkiewicz |
| collection | DOAJ |
| description | Abstract Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps. |
| first_indexed | 2024-03-07T14:41:44Z |
| format | Article |
| id | doaj.art-711aa8083926476e936d8852e29436fd |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T14:41:44Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-711aa8083926476e936d8852e29436fd2024-03-05T20:20:20ZengBMCOrphanet Journal of Rare Diseases1750-11722024-01-0119112110.1186/s13023-024-03040-0Molecular landscape of congenital vertebral malformations: recent discoveries and future directionsAnna Szoszkiewicz0Ewelina Bukowska-Olech1Aleksander Jamsheer2Department of Medical Genetics, Poznan University of Medical SciencesDepartment of Medical Genetics, Poznan University of Medical SciencesDepartment of Medical Genetics, Poznan University of Medical SciencesAbstract Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps.https://doi.org/10.1186/s13023-024-03040-0Vertebral defectsKlippel–Feil syndromeCongenital scoliosisSpondylocostal dysostosisButterfly vertebraeHemivertebra |
| spellingShingle | Anna Szoszkiewicz Ewelina Bukowska-Olech Aleksander Jamsheer Molecular landscape of congenital vertebral malformations: recent discoveries and future directions Orphanet Journal of Rare Diseases Vertebral defects Klippel–Feil syndrome Congenital scoliosis Spondylocostal dysostosis Butterfly vertebrae Hemivertebra |
| title | Molecular landscape of congenital vertebral malformations: recent discoveries and future directions |
| title_full | Molecular landscape of congenital vertebral malformations: recent discoveries and future directions |
| title_fullStr | Molecular landscape of congenital vertebral malformations: recent discoveries and future directions |
| title_full_unstemmed | Molecular landscape of congenital vertebral malformations: recent discoveries and future directions |
| title_short | Molecular landscape of congenital vertebral malformations: recent discoveries and future directions |
| title_sort | molecular landscape of congenital vertebral malformations recent discoveries and future directions |
| topic | Vertebral defects Klippel–Feil syndrome Congenital scoliosis Spondylocostal dysostosis Butterfly vertebrae Hemivertebra |
| url | https://doi.org/10.1186/s13023-024-03040-0 |
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