RT info:eu-repo/semantics/article
T1 A missense variant in TP53 could be a genetic biomarker associated with bone tissue alterations
A1 Usategui Martín, Ricardo
A1 Galindo Cabello, Nadia Regina
A1 Pastor Idoate, Salvador
A1 Fernández Gómez, José María Fidel
A1 Real, Álvaro del
A1 Ferreño, Diego
A1 Lapresa, Rebeca
A1 Martín Rodríguez, Francisco
A1 Riancho Moral, José Antonio
A1 Almeida, Angeles
A1 Pérez Castrillon, José Luis
K1 Bones - Diseases
K1 Huesos - Enfermedades
K1 Bones - Metabolism - Disorders
K1 Huesos - Metabolismo, trastornos del
K1 Osteoporosis
K1 Polymorphism
K1 Apoptosis
K1 Cell death
K1 Células - Muerte
K1 Biomarkers
K1 Cell biology
K1 Medicine
K1 TP53
K1 3207.14 Osteopatología
K1 2407 Biología Celular
K1 32 Ciencias Médicas
AB 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.
PB MDPI
SN 1422-0067
YR 2024
FD 2024
LK https://uvadoc.uva.es/handle/10324/69817
UL https://uvadoc.uva.es/handle/10324/69817
LA eng
NO International Journal of Molecular Sciences, 2024, Vol. 25, Nº. 3, 1395
NO Producción Científica
DS UVaDOC
RD 22-dic-2024