Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/81615
Título
The TP53 Arg72Pro polymorphism predicts visual and neurodegenerative outcomes in retinal detachment
Autor
Año del Documento
2025
Editorial
SPRINGERNATURE
Documento Fuente
Cell Death Dis. 2025 May 26;16(1):415.
Resumo
Retinal detachment (RD) separates the retina from the retinal epithelium, causing photoreceptor apoptosis and irreversible vision
loss. Even with successful surgical reattachment, complete visual recovery is not guaranteed. The TP53 Arg72Pro polymorphism,
implicated in apoptosis, has emerged as a potential predictor of RD outcomes. We investigated the impact of the Arg72Pro
polymorphism on retinal neurodegeneration and functional recovery in patients. The underlying mechanisms were analyzed in a
humanized TP53 Arg72Pro RD mouse model. In a cohort of 180 patients, carriers of the Pro allele exhibited decreased apoptotic
gene expression and improved visual recovery. Complementary findings in mice revealed that the Pro variant preserved
photoreceptor integrity and reduced apoptosis rates following RD. Our findings highlight the potential of this TP53 polymorphism
as a biomarker for RD outcomes and a tool for tailoring therapies. This study underscores the importance of integrating genetic
profiling into personalized medicine approaches to improve recovery of RD patients’ visual outcomes
ISSN
2041-4889
Revisión por pares
SI
Idioma
spa
Tipo de versión
info:eu-repo/semantics/publishedVersion
Derechos
openAccess
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