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Detalle_Publicacion

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

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Autoría: Usategui-Martín R., Galindo-Cabello N., Pastor-Idoate S., Fernández-Gómez J.M., del Real Á., Ferreño D., Lapresa R., Martín-Rodriguez F., Riancho J.A., Almeida Á., Pérez-Castrillón J.L.,

 Fuente: International Journal of Molecular Sciences, 2024, 25(3), 1395

Editorial: MDPI

 Fecha de publicación: 01/01/2024

Nº de páginas: 10

Tipo de publicación: Artículo de Revista

 DOI: 10.3390/ijms25031395

ISSN: 1661-6596,1422-0067

 Proyecto español: PID2020-114585RA-I00

Autoría

USATEGUI-MARTÍN, RICARDO

GALINDO-CABELLO, NADIA

PASTOR-IDOATE, SALVADOR

FERNÁNDEZ-GÓMEZ, JOSÉ MARÍA

ÁLVARO DEL REAL BOLT

LAPRESA, REBECA

MARTÍN-RODRIGUEZ, FRANCISCO

ALMEIDA, ÁNGELES

PÉREZ-CASTRILLÓN, JOSÉ LUIS