Abstract：
Age-related macular degeneration (AMD) is characterized by visual impairment observed in elderly population. Two forms of the disease are generally described, the atrophic (AMDa) and exudative forms (AMDe). Up until now, no curative treatment is available for this disease. The retinal pigment epithelium (RPE) plays a central role in the pathogenesis of age-related macular degeneration. Here, involvement of RPE dysfunction in AMD onset and progression was analyzed by a comparison of transcriptome profiles of hiPSC-RPE derived from healthy individuals or individuals affected by AMDa or AMDe. The analysis highlighted almost 1000 genes differentially expressed between the three comparison groups. Among these genes, 33 genes were already known to be involved in AMD pathogenesis. To establish an AMD genetic signature, we focused on genes differentially expressed in both AMDa/e cell lines compared to control cells and focused on the three genes (ABCA1, RPN2, RB1CC1) that were related to lipidic homeostasis. Differences in level expression of these three genes are found not only in control and AMDa/e cell lines, but also between AMDa and AMDe populations.
摘要：
年龄相关性黄斑变性（AMD）的特征是在老年人群中观察到的视觉障碍。一般描述了两种形式的疾病，萎缩（AMDa）和渗出形式（AMDe）。直到现在,这种疾病没有治愈性治疗方法。视网膜色素上皮（RPE）在年龄相关性黄斑变性的发病机理中起着重要作用。这里,通过比较来自健康个体或受AMDa或AMDe影响的个体的hiPSC-RPE的转录组概况,分析了RPE功能障碍在AMD发病和进展中的作用.该分析突出了三个比较组之间差异表达的近1000个基因。在这些基因中,已知33个基因与AMD发病机制有关。为了建立AMD遗传签名，我们关注与对照细胞相比在两个AMDa/e细胞系中差异表达的基因,并关注与脂质稳态相关的三个基因(ABCA1,RPN2,RB1CC1).这三个基因的水平表达差异不仅在对照和AMDa/e细胞系中发现，而且在AMDa和AMDe人群之间。
