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Altered vertebrae morphology and bone mineralization in a zebrafish model of CHARGE syndrome

View ORCID ProfileMaximilian Breuer, Maximilian Rummler, Charlotte Zaouter, Bettina M. Willie, Shunmoogum A. Patten
doi: https://doi.org/10.1101/2020.07.10.197533
Maximilian Breuer
1INRS – Centre Armand Frappier Santé Biotechnologie, 531 Boulevard des Prairies, Laval, QC, Canada, H7V 1B7
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  • ORCID record for Maximilian Breuer
  • For correspondence: Maximilian.Breuer@iaf.inrs.ca
Maximilian Rummler
2Research Centre, Shriners Hospital for Children-Canada, Department of Pediatric Surgery, McGill University, 1003 Decarie Blvd, Montreal, Canada H4A 0A9
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Charlotte Zaouter
1INRS – Centre Armand Frappier Santé Biotechnologie, 531 Boulevard des Prairies, Laval, QC, Canada, H7V 1B7
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Bettina M. Willie
2Research Centre, Shriners Hospital for Children-Canada, Department of Pediatric Surgery, McGill University, 1003 Decarie Blvd, Montreal, Canada H4A 0A9
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Shunmoogum A. Patten
1INRS – Centre Armand Frappier Santé Biotechnologie, 531 Boulevard des Prairies, Laval, QC, Canada, H7V 1B7
3Centre d’Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal (UQAM), Montréal, QC, Canada
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Abstract

CHARGE syndrome patients present features of idiopathic scoliosis in over 60% of cases, reduced bone mineral density and in a few cases osteopenia. While several clinical cases and studies regarding the spinal deformities in CHARGE syndrome bearing CHD7 mutations are well-documented, the underlying mechanisms remain elusive. Here, we detect and quantitatively analyze skeletal abnormalities in adult and young chd7−/− larvae.

We show that young chd7−/− larvae present with scoliosis and kyphosis already at 9 dpf. Gene expression analysis confirmed the reduction of osteoblast markers and Pparγ targets. MicroCT analyses identified abnormal Weberian apparatus structure and vertebral body morphology in chd7−/− mutants, with highly mineralized inclusions, along with variances in bone mineral density and bone volume. Additionally, we detect a specific depletion of Col2a1a in the zebrafish vertebral cartilage, in line with a significantly reduced number of chondrocytes.

Our study is the first to elucidate the mechanisms underlying morphological changes in vertebrae of adult chd7−/− zebrafish and decreased spinal integrity. The chd7−/− zebrafish will be beneficial in future investigations of the underlying pathways of spinal deformities in CHARGE syndrome.

Competing Interest Statement

The authors have declared no competing interest.

Footnotes

  • Conflict of Interest

    The authors declare no conflicts of interest

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted July 11, 2020.
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Altered vertebrae morphology and bone mineralization in a zebrafish model of CHARGE syndrome
Maximilian Breuer, Maximilian Rummler, Charlotte Zaouter, Bettina M. Willie, Shunmoogum A. Patten
bioRxiv 2020.07.10.197533; doi: https://doi.org/10.1101/2020.07.10.197533
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Altered vertebrae morphology and bone mineralization in a zebrafish model of CHARGE syndrome
Maximilian Breuer, Maximilian Rummler, Charlotte Zaouter, Bettina M. Willie, Shunmoogum A. Patten
bioRxiv 2020.07.10.197533; doi: https://doi.org/10.1101/2020.07.10.197533

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