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
  • Musculoskeletal Abnormalities*
  • Neurons
  • Adolescent
  • Calcium Channels
  • Animals
  • Scheuermann Disease*
  • Scoliosis*/diagnostic imaging
  • Scoliosis*/genetics
  • Radiography
  • Adult
  • Receptors, Cell Surface
  • Spine
  • Zebrafish
  • Humans
(all 14)
PubMed
37016154 Full text @ Sci. Rep.
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
Figures
Figure Gallery (5 images)
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Expression
Phenotype
Fish Conditions Stage Phenotype Figure
pkd2l1icm02/+standard conditionsAdult
pkd2l1icm02/+standard conditionsAdult
pkd2l1icm02/+standard conditionsAdult
pkd2l1icm02/+standard conditionsAdult
pkd2l1icm02/icm02standard conditionsProtruding-mouth
pkd2l1icm02/icm02standard conditionsDay 5
pkd2l1icm02/icm02standard conditionsAdult
pkd2l1icm02/icm02standard conditionsAdult
pkd2l1icm02/icm02standard conditionsAdult
pkd2l1icm02/icm02standard conditionsAdult
1 - 10 of 13
Show
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
icm02
    		Small Deletion
    1 - 1 of 1
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    Human Disease / Model
    Human Disease Fish Conditions Evidence
    Scheuermann's diseaseTAS
    1 - 1 of 1
    Show
    Sequence Targeting Reagents
    No data available
    Fish
    Fish
    pkd2l1icm02/icm02
    pkd2l1icm02/+
    1 - 2 of 2
    Show
    Antibodies
    No data available
    Orthology
    No data available
    Engineered Foreign Genes
    No data available
    Mapping
    No data available
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    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.