PUBLICATION
Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann's disease
- Authors
- Marie-Hardy, L., Slimani, L., Messa, G., El Bourakkadi, Z., Prigent, A., Sayetta, C., Koëth, F., Pascal-Moussellard, H., Wyart, C., Cantaut-Belarif, Y.
- ID
- ZDB-PUB-230405-52
- Date
- 2023
- Source
- Scientific Reports 13: 55295529 (Journal)
- Registered Authors
- Wyart, Claire
- Keywords
- none
- MeSH Terms
-
- Adolescent
- Adult
- Animals
- Calcium Channels
- Humans
- Musculoskeletal Abnormalities*
- Neurons
- Radiography
- Receptors, Cell Surface
- Scheuermann Disease*
- Scoliosis*/diagnostic imaging
- Scoliosis*/genetics
- Spine
- Zebrafish
- PubMed
- 37016154 Full text @ Sci. Rep.
Citation
Marie-Hardy, L., Slimani, L., Messa, G., El Bourakkadi, Z., Prigent, A., Sayetta, C., Koëth, F., Pascal-Moussellard, H., Wyart, C., Cantaut-Belarif, Y. (2023) Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann's disease. Scientific Reports. 13:55295529.
Abstract
Scheuermann's disease, also referred to as Scheuermann's kyphosis, is the second most frequent spine deformity occurring in humans after adolescent idiopathic scoliosis (AIS), both with an unclear etiology. Recent genetic studies in zebrafish unraveled new mechanisms linked to AIS, highlighting the role of the Reissner fiber, an acellular polymer bathing in the cerebrospinal fluid (CSF) in close proximity with ciliated cells and mechanosensory neurons lining the central canal of the spinal cord (CSF-cNs). However, while the Reissner fiber and ciliary beating have been linked to AIS-like phenotypes in zebrafish, the relevance of the sensory functions of CSF-cNs for human spine disorders remains unknown. Here, we show that the thoracic hyper-kyphosis of the spine previously reported in adult pkd2l1 mutant zebrafish, in which the mechanosensory function of CSF-cNs is likely defective, is restricted to the sagittal plane and is not associated with vertebral malformations. By applying orthopedic criteria to analyze the amplitude of the curvature at the apex of the kyphosis, the curve pattern, the sagittal balance and sex bias, we demonstrate that pkd2l1 knock-outs develop a phenotype reminiscent of Scheuermann's disease. Altogether our work consolidates the benefit of combining genetics and analysis of spine deformities in zebrafish to model idiopathic spine disorders in humans.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping