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

Abstract 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 z...

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Autores principales:	Marie-Hardy Laura, Cantaut-Belarif Yasmine, Pietton Raphaël, Slimani Lotfi, Pascal-Moussellard Hugues
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/69e0796306d143ba9630ebf9418ce8bb
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spelling	oai:doaj.org-article:69e0796306d143ba9630ebf9418ce8bb2021-12-02T18:18:06ZThe orthopedic characterization of cfap298 tm304 mutants validate zebrafish to faithfully model human AIS10.1038/s41598-021-86856-12045-2322https://doaj.org/article/69e0796306d143ba9630ebf9418ce8bb2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86856-1https://doaj.org/toc/2045-2322Abstract 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.Marie-Hardy LauraCantaut-Belarif YasminePietton RaphaëlSlimani LotfiPascal-Moussellard HuguesNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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
description	Abstract 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.
format	article
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
title	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_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_sort	orthopedic characterization of cfap298 tm304 mutants validate zebrafish to faithfully model human ais
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/69e0796306d143ba9630ebf9418ce8bb
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The orthopedic characterization of cfap298 tm304 mutants validate zebrafish to faithfully model human AIS

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