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TP53基因第72位密码子精氨酸突变为脯氨酸的多态性可预测视网膜脱离患者的视力及神经退行性变转归。

The TP53 Arg72Pro polymorphism predicts visual and neurodegenerative outcomes in retinal detachment.

作者信息

Galindo-Cabello Nadia, Sobas-Abad Eva M, Lapresa Rebeca, Agulla Jesús, Almeida Ángeles, López Antonio, Pastor José Carlos, Pastor-Idoate Salvador, Usategui-Martín Ricardo

机构信息

Unit of Excellence Institute of Applied Ophthalmobiology (IOBA), University of Valladolid, Valladolid, Spain.

Department of Cell Biology, Genetics, Histology and Pharmacology, Faculty of Medicine, University of Valladolid, Valladolid, Spain.

出版信息

Cell Death Dis. 2025 May 26;16(1):415. doi: 10.1038/s41419-025-07739-1.

DOI:10.1038/s41419-025-07739-1
PMID:40419469
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12106684/
Abstract

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.

摘要

视网膜脱离（RD）使视网膜与视网膜上皮分离，导致光感受器凋亡和不可逆的视力丧失。即使手术成功复位，也不能保证视力完全恢复。与凋亡相关的TP53基因第72位密码子精氨酸（Arg）突变为脯氨酸（Pro）的多态性，已成为视网膜脱离预后的一个潜在预测指标。我们研究了Arg72Pro多态性对患者视网膜神经变性和功能恢复的影响。在人源化TP53 Arg72Pro视网膜脱离小鼠模型中分析了其潜在机制。在一个由180名患者组成的队列中，Pro等位基因携带者的凋亡基因表达降低，视力恢复改善。在小鼠中的补充研究结果表明，Pro变体保留了光感受器的完整性，并降低了视网膜脱离后的凋亡率。我们的研究结果突出了这种TP53多态性作为视网膜脱离预后生物标志物和定制治疗工具的潜力。这项研究强调了将基因谱分析纳入个性化医疗方法以改善视网膜脱离患者视力恢复的重要性。

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本文引用的文献

1
Retinal detachment.视网膜脱离。
Nat Rev Dis Primers. 2024 Mar 14;10(1):18. doi: 10.1038/s41572-024-00501-5.
2
Impact of Baseline Morphologic Stage of Rhegmatogenous Retinal Detachment on Postoperative Visual Acuity.裂孔源性视网膜脱离术前形态学分期对术后视力的影响。
Ophthalmol Retina. 2024 Jul;8(7):624-632. doi: 10.1016/j.oret.2024.01.014. Epub 2024 Jan 18.
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Outer Retinal Hyperreflective Dots: A Potential Imaging Biomarker in Rhegmatogenous Retinal Detachment.外网状层高亮点状：裂孔源性视网膜脱离的潜在影像学生物标志物。
Ophthalmol Retina. 2023 Dec;7(12):1087-1096. doi: 10.1016/j.oret.2023.07.016. Epub 2023 Jul 20.
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The S100B Protein: A Multifaceted Pathogenic Factor More Than a Biomarker.S100B 蛋白：一种多效性的致病因子，不仅仅是一种生物标志物。
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Hyper-reflective dots in optical coherence tomography imaging and inflammation markers in diabetic retinopathy.光学相干断层扫描成像中的高反射点与糖尿病视网膜病变中的炎症标志物。
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Targeting p53 for neuroinflammation: New therapeutic strategies in ischemic stroke.靶向 p53 治疗神经炎症：缺血性脑卒中的新治疗策略。
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Inflammation and Oxidative Stress Gene Variability in Retinal Detachment Patients with and without Proliferative Vitreoretinopathy.炎症和氧化应激基因变异在伴有和不伴有增生性玻璃体视网膜病变的视网膜脱离患者中的研究。
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Morphologic Stages of Rhegmatogenous Retinal Detachment Assessed Using Swept-Source OCT.应用扫频源光学相干断层扫描评估孔源性视网膜脱离的形态学分期。
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Sensitivity of the Dorsal-Central Retinal Pigment Epithelium to Sodium Iodate-Induced Damage Is Associated With Overlying M-Cone Photoreceptors in Mice.背-中央视网膜色素上皮对碘酸钠诱导的损伤的敏感性与小鼠中覆盖的 M-锥体感光细胞有关。
Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):29. doi: 10.1167/iovs.63.9.29.
10
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