Fibrous dysplasia animal models: A systematic review.

Animals Bone and Bones / pathology Fibrous Dysplasia of Bone / genetics GTP-Binding Protein alpha Subunits, Gs / genetics GTP-Binding Proteins / metabolism Mutation / genetics
Animal Fibrous dysplasia In vivo

Journal

Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048

Informations de publication

Date de publication:
02 2022
Historique:
received: 15 09 2021
revised: 22 11 2021
accepted: 25 11 2021
pubmed: 8 12 2021
medline: 19 4 2022
entrez: 7 12 2021
Statut: ppublish

Résumé

Fibrous dysplasia (FD) is a rare genetic bone disorder resulting in an overproduction of cAMP leading to a structurally unsound tissue, caused by a genetic mutation in the guanine nucleotide-binding protein gene (GNAS). In order to better understand this disease, several animal models have been developed with different strategies and features. Conduct a systematic review to analyze and compare animal models with the causative mutation and features of FD. A PRISMA search was conducted in Scopus, PubMed, and Web of Science. Studies reporting an in vivo model of FD that expressed the causative mutation were included for analysis. Models without the causative mutation, but developed an FD phenotype and models of FD cell implantation were included for subanalysis. Seven unique models were identified. The models were assessed and compared for their face validity, construct validity, mosaicism, and induction methods. This was based on the features of clinical FD that were reported within the categories of: macroscopic features, imaging, histology and histomorphometry, histochemical and cellular markers, and blood/urine markers. None of the models reported all features of FD and some features were only reported in one model. This made comparing models a challenge, but indicates areas where further research is necessary. The benefits and disadvantages of every model were assessed from a practical and scientific standpoint. While all published reports lacked complete data, the models have nonetheless informed our understanding of FD and provided meaningful information to guide researchers in bench and clinical research.

Sections du résumé

BACKGROUND
Fibrous dysplasia (FD) is a rare genetic bone disorder resulting in an overproduction of cAMP leading to a structurally unsound tissue, caused by a genetic mutation in the guanine nucleotide-binding protein gene (GNAS). In order to better understand this disease, several animal models have been developed with different strategies and features.
OBJECTIVE
Conduct a systematic review to analyze and compare animal models with the causative mutation and features of FD.
METHODS
A PRISMA search was conducted in Scopus, PubMed, and Web of Science. Studies reporting an in vivo model of FD that expressed the causative mutation were included for analysis. Models without the causative mutation, but developed an FD phenotype and models of FD cell implantation were included for subanalysis.
RESULTS
Seven unique models were identified. The models were assessed and compared for their face validity, construct validity, mosaicism, and induction methods. This was based on the features of clinical FD that were reported within the categories of: macroscopic features, imaging, histology and histomorphometry, histochemical and cellular markers, and blood/urine markers.
LIMITATIONS
None of the models reported all features of FD and some features were only reported in one model. This made comparing models a challenge, but indicates areas where further research is necessary.
CONCLUSION
The benefits and disadvantages of every model were assessed from a practical and scientific standpoint. While all published reports lacked complete data, the models have nonetheless informed our understanding of FD and provided meaningful information to guide researchers in bench and clinical research.

Identifiants

DOI: 10.1016/j.bone.2021.116270 PMID: 34875396
pubmed: 34875396
pii: S8756-3282(21)00436-1
doi: 10.1016/j.bone.2021.116270
pii:
doi:

Substances chimiques

GTP-Binding Proteins EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs EC 3.6.5.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

116270

Informations de copyright

Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

Auteurs

Chelsea Hopkins (C)

Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.

Luis Fernandez de Castro (LF)

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Alessandro Corsi (A)

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Alison Boyce (A)

Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Michael T Collins (MT)

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Mara Riminucci (M)

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Anne-Marie Heegaard (AM)

Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. Electronic address: amhe@sund.ku.dk.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Fibrous dysplasia animal models: A systematic review.
questionsmedicales.fr › Tissus › Tissu conjonctif › Os et tissu osseux › Fibrous dysplasia animal models: A systematic review.
questionsmedicales.fr › Maladies ostéomusculaires › Maladies osseuses › Dysplasies osseuses › Dysplasie fibreuse des os › Fibrous dysplasia animal models: A systematic review.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines G hétérotrimériques › Sous-unités alpha des protéines G › Sous-unités alpha Gs des protéines G › Fibrous dysplasia animal models: A systematic review.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Fibrous dysplasia animal models: A systematic review.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Fibrous dysplasia animal models: A systematic review.