The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS

Cerebrospinal fluid (CSF) circulation relies on the beating of motile cilia projecting in the lumen of the brain and spinal cord cavities Mutations in genes involved in cilia motility disturb cerebrospinal fluid circulation and result in scoliosis-like deformities of the spine in juvenile zebrafish....

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Autores principales: Marie-Hardy, Laura, Cantaut-Belarif, Yasmine, Pietton, Raphaël, Slimani, Lotfi, Pascal-Moussellard, Hugues
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016992/
https://www.ncbi.nlm.nih.gov/pubmed/33795825
http://dx.doi.org/10.1038/s41598-021-86856-1
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author Marie-Hardy, Laura
Cantaut-Belarif, Yasmine
Pietton, Raphaël
Slimani, Lotfi
Pascal-Moussellard, Hugues
author_facet Marie-Hardy, Laura
Cantaut-Belarif, Yasmine
Pietton, Raphaël
Slimani, Lotfi
Pascal-Moussellard, Hugues
author_sort Marie-Hardy, Laura
collection PubMed
description Cerebrospinal fluid (CSF) circulation relies on the beating of motile cilia projecting in the lumen of the brain and spinal cord cavities Mutations in genes involved in cilia motility disturb cerebrospinal fluid circulation and result in scoliosis-like deformities of the spine in juvenile zebrafish. However, these defects in spine alignment have not been validated with clinical criteria used to diagnose adolescent idiopathic scoliosis (AIS). The aim of this study was to describe, using orthopaedic criteria the spinal deformities of a zebrafish mutant model of AIS targeting a gene involved in cilia polarity and motility, cfap298(tm304). The zebrafish mutant line cfap298(tm304), exhibiting alteration of CSF flow due to defective cilia motility, was raised to the juvenile stage. The analysis of mutant animals was based on micro-computed tomography (micro-CT), which was conducted in a QUANTUM FX CALIPER, with a 59 µm-30 mm protocol. 63% of the cfap298(tm304) zebrafish analyzed presented a three-dimensional deformity of the spine, that was evolutive during the juvenile phase, more frequent in females, with a right convexity, a rotational component and involving at least one dislocation. We confirm here that cfap298(tm304) scoliotic individuals display a typical AIS phenotype, with orthopedic criteria mirroring patient’s diagnosis.
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spelling pubmed-80169922021-04-07 The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS Marie-Hardy, Laura Cantaut-Belarif, Yasmine Pietton, Raphaël Slimani, Lotfi Pascal-Moussellard, Hugues Sci Rep Article Cerebrospinal fluid (CSF) circulation relies on the beating of motile cilia projecting in the lumen of the brain and spinal cord cavities Mutations in genes involved in cilia motility disturb cerebrospinal fluid circulation and result in scoliosis-like deformities of the spine in juvenile zebrafish. However, these defects in spine alignment have not been validated with clinical criteria used to diagnose adolescent idiopathic scoliosis (AIS). The aim of this study was to describe, using orthopaedic criteria the spinal deformities of a zebrafish mutant model of AIS targeting a gene involved in cilia polarity and motility, cfap298(tm304). The zebrafish mutant line cfap298(tm304), exhibiting alteration of CSF flow due to defective cilia motility, was raised to the juvenile stage. The analysis of mutant animals was based on micro-computed tomography (micro-CT), which was conducted in a QUANTUM FX CALIPER, with a 59 µm-30 mm protocol. 63% of the cfap298(tm304) zebrafish analyzed presented a three-dimensional deformity of the spine, that was evolutive during the juvenile phase, more frequent in females, with a right convexity, a rotational component and involving at least one dislocation. We confirm here that cfap298(tm304) scoliotic individuals display a typical AIS phenotype, with orthopedic criteria mirroring patient’s diagnosis. Nature Publishing Group UK 2021-04-01 /pmc/articles/PMC8016992/ /pubmed/33795825 http://dx.doi.org/10.1038/s41598-021-86856-1 Text en © The Author(s) 2021, corrected publication 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Marie-Hardy, Laura
Cantaut-Belarif, Yasmine
Pietton, Raphaël
Slimani, Lotfi
Pascal-Moussellard, Hugues
The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title_full The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title_fullStr The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title_full_unstemmed The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title_short The orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human AIS
title_sort orthopedic characterization of cfap298(tm304) mutants validate zebrafish to faithfully model human ais
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016992/
https://www.ncbi.nlm.nih.gov/pubmed/33795825
http://dx.doi.org/10.1038/s41598-021-86856-1
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