Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Bone Microarchitecture Alterations Are Associated With the TP53 Arg72Pro Polymorphism

Ricardo Usategui-Martín
* ,
Nadia Galindo-Cabello
,
Salvador Pastor-Idoate
,
José María Fernandez-Gómez
,
Alvaro del Real
ORCID logo ,
Diego Ferreño
,
Rebeca Lapresa
,
Francisco Martín-Rodriguez
,
José A Riacho
,
Angeles Almeida
,
Jose-Luis Pérez-Castrillón
* ORCID logo
Version 1 : Received: 9 October 2023 / Approved: 10 October 2023 / Online: 10 October 2023 (10:41:06 CEST)

How to cite: Usategui-Martín, R.; Galindo-Cabello, N.; Pastor-Idoate, S.; Fernandez-Gómez, J.M.; del Real, A.; Ferreño, D.; Lapresa, R.; Martín-Rodriguez, F.; Riacho, J.A.; Almeida, A.; Pérez-Castrillón, J. Bone Microarchitecture Alterations Are Associated With the TP53 Arg72Pro Polymorphism. Preprints 2023, 2023100604. https://doi.org/10.20944/preprints202310.0604.v1 Usategui-Martín, R.; Galindo-Cabello, N.; Pastor-Idoate, S.; Fernandez-Gómez, J.M.; del Real, A.; Ferreño, D.; Lapresa, R.; Martín-Rodriguez, F.; Riacho, J.A.; Almeida, A.; Pérez-Castrillón, J. Bone Microarchitecture Alterations Are Associated With the TP53 Arg72Pro Polymorphism. Preprints 2023, 2023100604. https://doi.org/10.20944/preprints202310.0604.v1

Abstract

Metabolic bone diseases cover a broad spectrum of disorders that share alterations of bone metabolism leading to a defective skeleton, associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, being TP53 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 the humanized Tp53 Arg72Pro knock-in mice. This work reported on the influence of TP53 Arg72Pro polymorphism in bone microarchitecture, OPG gene expression and apoptosis bone status. The results showed that the proline variant of TP53 Arg72Pro polymorphism (Pro72-p53) was 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 to identify individuals with an increased risk of suffering metabolic bone alterations

Keywords

metabolic bone diseases; osteoporosis; TP53; p53; apoptosis and gene polymorphism

Subject

Medicine and Pharmacology, Internal Medicine

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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