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血清RNA谱反映新生血管性年龄相关性黄斑变性的体液状态和视网膜萎缩性变化。

Serum RNA Profile Reflects Fluid Status and Atrophic Retinal Changes in Neovascular Age-Related Macular Degeneration.

作者信息

Heloterä Hanna, Kostanek Joanna, Liukkonen Mikko, Siintamo Leea, Linna-Kuosmanen Suvi, Watala Cezary, Blasiak Janusz, Kaarniranta Kai

机构信息

Department of Ophthalmology, University of Eastern Finland, 70210 Kuopio, Finland.

Department of Haemostatic Disorders, Medical University of Lodz, 90-419 Lodz, Poland.

出版信息

Int J Mol Sci. 2025 May 19;26(10):4852. doi: 10.3390/ijms26104852.

Abstract

The increasing prevalence of age-related macular degeneration (AMD), a disease that can result in the loss of central vision, is an emerging problem worldwide due to aging societies. Growing patient numbers create a challenge for the healthcare system. Understanding the mechanisms of AMD pathogenesis will aid in early, personalized, and efficient intervention, helping to mitigate this issue. Current diagnostic methods rely on optical coherence tomography and angiography imaging, which identify existing damages, but do not provide information on the mechanisms behind them. In the present work, we demonstrate a difference in the serum RNA profile between neovascular AMD (nAMD) patients and controls. Moreover, the RNA profile of nAMD patients corresponded with anatomical changes in the retinal fluid compartments as well as atrophic changes of the retina. We followed two independent ways to control false positive leads, and when these approaches were combined, thioredoxin-related transmembrane protein 4 (TMX4) was observed to be differentially expressed by both approaches. This finding opens a new pathway in AMD studies, which are limited due to restricted access to live human target material and the limited value of animal models of human AMD.

摘要

年龄相关性黄斑变性(AMD)的患病率不断上升,这种疾病可导致中心视力丧失,由于社会老龄化,这已成为全球一个新出现的问题。患者数量的增加给医疗系统带来了挑战。了解AMD发病机制将有助于早期、个性化和高效干预,从而有助于缓解这一问题。目前的诊断方法依赖于光学相干断层扫描和血管造影成像,这些方法可识别已有的损伤,但无法提供其背后机制的信息。在本研究中,我们证明了新生血管性AMD(nAMD)患者与对照组血清RNA谱存在差异。此外,nAMD患者的RNA谱与视网膜液腔的解剖学变化以及视网膜萎缩性变化相对应。我们采用了两种独立的方法来控制假阳性线索,当这些方法结合使用时,观察到硫氧还蛋白相关跨膜蛋白4(TMX4)在两种方法中均有差异表达。这一发现为AMD研究开辟了一条新途径,由于获取人类活体靶标材料的机会有限以及人类AMD动物模型的价值有限,AMD研究受到了限制。

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