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Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life

Osteogenesis imperfecta is a rare genetic disorder characterized by bone fragility, due to alterations in the type I collagen molecule. It is a very heterogeneous disease, both genetically and phenotypically, with a high variability of clinical phenotypes, ranging from mild to severe forms, the most...

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Autores principales: Alcorta-Sevillano, Natividad, Infante, Arantza, Macías, Iratxe, Rodríguez, Clara I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820162/
https://www.ncbi.nlm.nih.gov/pubmed/36613624
http://dx.doi.org/10.3390/ijms24010184
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author Alcorta-Sevillano, Natividad
Infante, Arantza
Macías, Iratxe
Rodríguez, Clara I.
author_facet Alcorta-Sevillano, Natividad
Infante, Arantza
Macías, Iratxe
Rodríguez, Clara I.
author_sort Alcorta-Sevillano, Natividad
collection PubMed
description Osteogenesis imperfecta is a rare genetic disorder characterized by bone fragility, due to alterations in the type I collagen molecule. It is a very heterogeneous disease, both genetically and phenotypically, with a high variability of clinical phenotypes, ranging from mild to severe forms, the most extreme cases being perinatal lethal. There is no curative treatment for OI, and so great efforts are being made in order to develop effective therapies. In these attempts, the in vivo preclinical studies are of paramount importance; therefore, serious analysis is required to choose the right murine OI model able to emulate as closely as possible the disease of the target OI population. In this review, we summarize the features of OI murine models that have been used for preclinical studies until today, together with recently developed new murine models. The bone parameters that are usually evaluated in order to determine the relevance of new developing therapies are exposed, and finally, current and innovative therapeutic strategies attempts considered in murine OI models, along with their mechanism of action, are reviewed. This review aims to summarize the in vivo studies developed in murine models available in the field of OI to date, in order to help the scientific community choose the most accurate OI murine model when developing new therapeutic strategies capable of improving the quality of life.
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spelling pubmed-98201622023-01-07 Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life Alcorta-Sevillano, Natividad Infante, Arantza Macías, Iratxe Rodríguez, Clara I. Int J Mol Sci Review Osteogenesis imperfecta is a rare genetic disorder characterized by bone fragility, due to alterations in the type I collagen molecule. It is a very heterogeneous disease, both genetically and phenotypically, with a high variability of clinical phenotypes, ranging from mild to severe forms, the most extreme cases being perinatal lethal. There is no curative treatment for OI, and so great efforts are being made in order to develop effective therapies. In these attempts, the in vivo preclinical studies are of paramount importance; therefore, serious analysis is required to choose the right murine OI model able to emulate as closely as possible the disease of the target OI population. In this review, we summarize the features of OI murine models that have been used for preclinical studies until today, together with recently developed new murine models. The bone parameters that are usually evaluated in order to determine the relevance of new developing therapies are exposed, and finally, current and innovative therapeutic strategies attempts considered in murine OI models, along with their mechanism of action, are reviewed. This review aims to summarize the in vivo studies developed in murine models available in the field of OI to date, in order to help the scientific community choose the most accurate OI murine model when developing new therapeutic strategies capable of improving the quality of life. MDPI 2022-12-22 /pmc/articles/PMC9820162/ /pubmed/36613624 http://dx.doi.org/10.3390/ijms24010184 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Alcorta-Sevillano, Natividad
Infante, Arantza
Macías, Iratxe
Rodríguez, Clara I.
Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title_full Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title_fullStr Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title_full_unstemmed Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title_short Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
title_sort murine animal models in osteogenesis imperfecta: the quest for improving the quality of life
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820162/
https://www.ncbi.nlm.nih.gov/pubmed/36613624
http://dx.doi.org/10.3390/ijms24010184
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