PUBLICATION
Primary cilia gene defects in BMSCs induce idiopathic scoliosis
- Authors
- Zhang, L., Yang, W., Zhao, Z., Wang, Y., Wang, H., Zhao, N., Zhou, J., Song, Z., Zhang, Z., Li, T., Zhe, S., Qian, G., Liu, Y., Xie, J.
- ID
- ZDB-PUB-251214-1
- Date
- 2025
- Source
- Cellular and molecular life sciences : CMLS : (Journal)
- Registered Authors
- Keywords
- Bone marrow mesenchymal stem cells, Ciliopathy, Mechanotransduction, Spinal deformity, Zebrafish model
- MeSH Terms
-
- Animals
- Bone Marrow Cells*/metabolism
- Bone Marrow Cells*/pathology
- Cilia*/genetics
- Cilia*/metabolism
- Cilia*/pathology
- Humans
- Mesenchymal Stem Cells*/metabolism
- Mesenchymal Stem Cells*/pathology
- Osteogenesis/genetics
- Scoliosis*/genetics
- Scoliosis*/metabolism
- Scoliosis*/pathology
- Signal Transduction
- Zebrafish
- PubMed
- 41389086 Full text @ Cell. Mol. Life Sci.
Citation
Zhang, L., Yang, W., Zhao, Z., Wang, Y., Wang, H., Zhao, N., Zhou, J., Song, Z., Zhang, Z., Li, T., Zhe, S., Qian, G., Liu, Y., Xie, J. (2025) Primary cilia gene defects in BMSCs induce idiopathic scoliosis. Cellular and molecular life sciences : CMLS. :.
Abstract
This paper investigated the role of cilia gene defects in bone marrow stem cells (BMSCs) in idiopathic scoliosis (IS). IS, a spinal deformity commonly occurring in adolescence, impacts patients' quality of life. Cilia, axial filaments covered by the cell membrane and composed of microtubules on the eukaryotic cell surface, include motile cilia and primary cilia. Primary cilia on the surface of most cells mediate intracellular signaling pathways. Cilia dysfunction correlates with skeletal diseases. Defects in cilia genes disrupt osteogenic signaling pathways in BMSCs, promoting IS progression. By sample analysis, lentiviral transfection of BMSCs, and in vivo experiments in zebrafish, we explored the impact of cilia gene defects on BMSCs' osteogenic signaling pathways and IS, revealing that defects impaired ciliogenesis, cellular signaling, and mechanical sensing, and affected vertebral alignment and skeletal patterning. These findings highlight the role of cilia gene defects in IS pathology, providing potential targets for clinical treatment.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping