Bone development and remodeling in metabolic disorders

There are many metabolic disorders that present with bone phenotypes. In some cases, the pathological bone symptoms are the main features of the disease whereas in others they are a secondary characteristic. In general, the generation of the bone problems in these disorders is not well understood an...

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Autores: Serra Vinardell, Jenny, Roca Ayats, Neus, Ugarte, Laura de, Vilageliu i Arqués, Lluïsa, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2020
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/153338
Acceso en línea:https://hdl.handle.net/2445/153338
Access Level:acceso abierto
Palabra clave:Fractures
Fèmur
Femur
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spelling Bone development and remodeling in metabolic disordersSerra Vinardell, JennyRoca Ayats, NeusUgarte, Laura deVilageliu i Arqués, LluïsaBalcells Comas, SusanaGrinberg Vaisman, Daniel RaúlFracturesFèmurFracturesFemurThere are many metabolic disorders that present with bone phenotypes. In some cases, the pathological bone symptoms are the main features of the disease whereas in others they are a secondary characteristic. In general, the generation of the bone problems in these disorders is not well understood and the therapeutic options for them are scarce. Bone development occurs in the early stages of embryonic development where the bone formation, or osteogenesis, takes place. This osteogenesis can be produced through the direct transformation of the pre-existing mesenchymal cells into bone tissue (intramembranous ossification) or by the replacement of the cartilage by bone (endochondral ossification). In contrast, bone remodeling takes place during the bone's growth, after the bone development, and continues throughout the whole life. The remodeling involves the removal of mineralized bone by osteoclasts followed by the formation of bone matrix by the osteoblasts, which subsequently becomes mineralized. In some metabolic diseases, bone pathological features are associated with bone development problems but in others they are associated with bone remodeling. Here, we describe three examples of impaired bone development or remodeling in metabolic diseases, including work by others and the results from our research. In particular, we will focus on hereditary multiple exostosis (or osteochondromatosis), Gaucher disease, and the susceptibility to atypical femoral fracture in patients treated with bisphosphonates for several years.Springer Verlag2020202020202020info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion12 p.application/pdfhttps://hdl.handle.net/2445/153338Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: https://doi.org/10.1002/jimd.12097Journal of Inherited Metabolic Disease, 2020, vol. 43, num. 1, p. 133-144https://doi.org/10.1002/jimd.12097(c) Springer Verlag, 2019info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1533382026-05-29T05:05:01Z
dc.title.none.fl_str_mv Bone development and remodeling in metabolic disorders
title Bone development and remodeling in metabolic disorders
spellingShingle Bone development and remodeling in metabolic disorders
Serra Vinardell, Jenny
Fractures
Fèmur
Fractures
Femur
title_short Bone development and remodeling in metabolic disorders
title_full Bone development and remodeling in metabolic disorders
title_fullStr Bone development and remodeling in metabolic disorders
title_full_unstemmed Bone development and remodeling in metabolic disorders
title_sort Bone development and remodeling in metabolic disorders
dc.creator.none.fl_str_mv Serra Vinardell, Jenny
Roca Ayats, Neus
Ugarte, Laura de
Vilageliu i Arqués, Lluïsa
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
author Serra Vinardell, Jenny
author_facet Serra Vinardell, Jenny
Roca Ayats, Neus
Ugarte, Laura de
Vilageliu i Arqués, Lluïsa
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
author_role author
author2 Roca Ayats, Neus
Ugarte, Laura de
Vilageliu i Arqués, Lluïsa
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Fractures
Fèmur
Fractures
Femur
topic Fractures
Fèmur
Fractures
Femur
description There are many metabolic disorders that present with bone phenotypes. In some cases, the pathological bone symptoms are the main features of the disease whereas in others they are a secondary characteristic. In general, the generation of the bone problems in these disorders is not well understood and the therapeutic options for them are scarce. Bone development occurs in the early stages of embryonic development where the bone formation, or osteogenesis, takes place. This osteogenesis can be produced through the direct transformation of the pre-existing mesenchymal cells into bone tissue (intramembranous ossification) or by the replacement of the cartilage by bone (endochondral ossification). In contrast, bone remodeling takes place during the bone's growth, after the bone development, and continues throughout the whole life. The remodeling involves the removal of mineralized bone by osteoclasts followed by the formation of bone matrix by the osteoblasts, which subsequently becomes mineralized. In some metabolic diseases, bone pathological features are associated with bone development problems but in others they are associated with bone remodeling. Here, we describe three examples of impaired bone development or remodeling in metabolic diseases, including work by others and the results from our research. In particular, we will focus on hereditary multiple exostosis (or osteochondromatosis), Gaucher disease, and the susceptibility to atypical femoral fracture in patients treated with bisphosphonates for several years.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020
2020
2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/153338
url https://hdl.handle.net/2445/153338
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1002/jimd.12097
Journal of Inherited Metabolic Disease, 2020, vol. 43, num. 1, p. 133-144
https://doi.org/10.1002/jimd.12097
dc.rights.none.fl_str_mv (c) Springer Verlag, 2019
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Springer Verlag, 2019
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 12 p.
application/pdf
dc.publisher.none.fl_str_mv Springer Verlag
publisher.none.fl_str_mv Springer Verlag
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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