Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia

Defining the molecular and cellular mechanisms underlying bone development is essential for getting a better understanding of human skeletal diseases [1]. Endochondral ossification is the process by which most of the bones of the body are formed from cartilage in early fetal development, and it cont...

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Autores: Fuente Pérez, Rocío|||0000-0002-2311-2836, García Bengoa, María, Fernández Iglesias, Ángela, Gil Peña, Helena|||0000-0002-8790-1391, Santos Rodríguez, Fernando|||0000-0002-0029-8252, López García, José Manuel|||0000-0003-0589-4763
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universidad de Oviedo (UNIOVI)
Repositorio:RUO. Repositorio Institucional de la Universidad de Oviedo
Idioma:inglés
OAI Identifier:oai:digibuo.uniovi.es:10651/63417
Acceso en línea:http://hdl.handle.net/10651/63417
https://dx.doi.org/10.3390/ijms23020934
Access Level:acceso abierto
Palabra clave:X-linked hypophosphatemia, XLH, FGF23, PHEX, phex, growth plate, GP, Hyp mice
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spelling Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemiaFuente Pérez, Rocío|||0000-0002-2311-2836García Bengoa, MaríaFernández Iglesias, ÁngelaGil Peña, Helena|||0000-0002-8790-1391Santos Rodríguez, Fernando|||0000-0002-0029-8252López García, José Manuel|||0000-0003-0589-4763X-linked hypophosphatemia, XLH, FGF23, PHEX, phex, growth plate, GP, Hyp miceDefining the molecular and cellular mechanisms underlying bone development is essential for getting a better understanding of human skeletal diseases [1]. Endochondral ossification is the process by which most of the bones of the body are formed from cartilage in early fetal development, and it continues throughout the period of growth. Longitudinal growth occurs within the long bones at the growth plate (GP). During childhood, the GP forms cartilage by the proliferation and hypertrophy of chondrocytes and synthesis of a specific extracellular matrix. Cartilage is subsequently calcified, degraded, and replaced by osseous tissue in a tightly regulated manner, allowing adequate growth of the body. X-linked hypophosphatemia (XLH) is the most frequent inherited cause of hypophosphatemic rickets and osteomalacia. In this disease, hypomineralization leads to severe impaired growth and skeletal deformities. The bone growth is the result of the GP activity that involves chondrocyte proliferation, hypertrophy/differentiation, apoptosis, cartilage matrix synthesis and remodeling of the cartilage into bone. This process is tightly regulated by a complex interaction of molecular signals acting systemically and locally within the GP. Disturbances of the skeletal growth are associated with alterations in the activity/regulation of the GP cartilage. Such disturbances are little known in XLH and will be the basis of the present review.Ministerio de Ciencia, Innovación y Universidades, Proyectos de Investigación en Salud Convocatoria 2018, Instituto de Salud Carlos III The European Commission for Marie Sklodowska-Curie Fellowships 2019 European Regional Development Funds 2013–2016 (ERDF, Grupin 14-020) Foundation of the University of Oviedo (FUO) Fundación para la Investigación y la Innovación Biosanitaria del Principado de Asturias (FINBA) Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)Multidisciplinary Digital Publishing Institute (MDPI)20222022-01-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articlehttp://hdl.handle.net/10651/63417https://dx.doi.org/10.3390/ijms23020934reponame:RUO. Repositorio Institucional de la Universidad de Oviedoinstname:Universidad de Oviedo (UNIOVI)InglésengEuropean Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 843717open accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:digibuo.uniovi.es:10651/634172026-06-07T06:38:51Z
dc.title.none.fl_str_mv Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
title Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
spellingShingle Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
Fuente Pérez, Rocío|||0000-0002-2311-2836
X-linked hypophosphatemia, XLH, FGF23, PHEX, phex, growth plate, GP, Hyp mice
title_short Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
title_full Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
title_fullStr Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
title_full_unstemmed Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
title_sort Cellular and molecular alterations underlying abnormal bone growth in X-linked hypophosphatemia
dc.creator.none.fl_str_mv Fuente Pérez, Rocío|||0000-0002-2311-2836
García Bengoa, María
Fernández Iglesias, Ángela
Gil Peña, Helena|||0000-0002-8790-1391
Santos Rodríguez, Fernando|||0000-0002-0029-8252
López García, José Manuel|||0000-0003-0589-4763
author Fuente Pérez, Rocío|||0000-0002-2311-2836
author_facet Fuente Pérez, Rocío|||0000-0002-2311-2836
García Bengoa, María
Fernández Iglesias, Ángela
Gil Peña, Helena|||0000-0002-8790-1391
Santos Rodríguez, Fernando|||0000-0002-0029-8252
López García, José Manuel|||0000-0003-0589-4763
author_role author
author2 García Bengoa, María
Fernández Iglesias, Ángela
Gil Peña, Helena|||0000-0002-8790-1391
Santos Rodríguez, Fernando|||0000-0002-0029-8252
López García, José Manuel|||0000-0003-0589-4763
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv X-linked hypophosphatemia, XLH, FGF23, PHEX, phex, growth plate, GP, Hyp mice
topic X-linked hypophosphatemia, XLH, FGF23, PHEX, phex, growth plate, GP, Hyp mice
description Defining the molecular and cellular mechanisms underlying bone development is essential for getting a better understanding of human skeletal diseases [1]. Endochondral ossification is the process by which most of the bones of the body are formed from cartilage in early fetal development, and it continues throughout the period of growth. Longitudinal growth occurs within the long bones at the growth plate (GP). During childhood, the GP forms cartilage by the proliferation and hypertrophy of chondrocytes and synthesis of a specific extracellular matrix. Cartilage is subsequently calcified, degraded, and replaced by osseous tissue in a tightly regulated manner, allowing adequate growth of the body. X-linked hypophosphatemia (XLH) is the most frequent inherited cause of hypophosphatemic rickets and osteomalacia. In this disease, hypomineralization leads to severe impaired growth and skeletal deformities. The bone growth is the result of the GP activity that involves chondrocyte proliferation, hypertrophy/differentiation, apoptosis, cartilage matrix synthesis and remodeling of the cartilage into bone. This process is tightly regulated by a complex interaction of molecular signals acting systemically and locally within the GP. Disturbances of the skeletal growth are associated with alterations in the activity/regulation of the GP cartilage. Such disturbances are little known in XLH and will be the basis of the present review.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10651/63417
https://dx.doi.org/10.3390/ijms23020934
url http://hdl.handle.net/10651/63417
https://dx.doi.org/10.3390/ijms23020934
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 843717
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
dc.source.none.fl_str_mv reponame:RUO. Repositorio Institucional de la Universidad de Oviedo
instname:Universidad de Oviedo (UNIOVI)
instname_str Universidad de Oviedo (UNIOVI)
reponame_str RUO. Repositorio Institucional de la Universidad de Oviedo
collection RUO. Repositorio Institucional de la Universidad de Oviedo
repository.name.fl_str_mv
repository.mail.fl_str_mv
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