A missense variant in TP53 could be a genetic biomarker associated with bone tissue alterations

Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic f...

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Detalles Bibliográficos
Autores: Usategui-Martín, Ricardo, Galindo-Cabello, Nadia, Pastor-Idoate, Salvador, Fernández-Gómez, José María, Real Bolt, Álvaro del|||0000-0002-1057-461X, Ferreño Blanco, Diego|||0000-0003-3533-1881, Lapresa, Rebeca, Martín-Rodriguez, Francisco, Riancho Moral, José Antonio|||0000-0003-0691-8755, Almeida, Ángeles, Pérez-Castrillón, José Luis
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/32590
Acceso en línea:https://hdl.handle.net/10902/32590
Access Level:acceso abierto
Palabra clave:Metabolic bone diseases
Osteoporosis
TP53
p53
Apoptosis and gene polymorphism
Descripción
Sumario:Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, with TP53 being one of the genes associated therewith. The single nucleotide polymorphism (SNP) Arg72Pro of TP53 is a genetic factor associated with several pathologies, including cancer, stroke, and osteoporosis. Here, we aim to analyze the influence of the TP53 Arg72Pro SNP on bone mass in humanized Tp53 Arg72Pro knock-in mice. This work reports on the influence of the TP53 Arg72Pro polymorphism in bone microarchitecture, OPG expression, and apoptosis bone status. The results show that the proline variant of the TP53 Arg72Pro polymorphism (Pro72-p53) is associated with deteriorated bone tissue, lower OPG/RANK ratio, and lower apoptosis in bone tissue. In conclusion, the TP53 Arg72Pro polymorphism modulates bone microarchitecture and may be a genetic biomarker that can be used to identify individuals with an increased risk of suffering metabolic bone alterations.

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