Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies.
Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies.
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DOI：
10.1016/j.yexmp.2009.08.003
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发表时间：
2009-12
影响因子：
3.6
通讯作者：
Weleber, Richard G.
中科院分区：
文献类型：
--
作者：
Adamus, Grazyna;Brown, Lori;Weleber, Richard G.
自身免疫性视网膜病变（AR）是一种罕见的视网膜变性，伴有视力丧失，与独特的临床症状和发现以及血清抗视网膜自身抗体相关。实验和临床研究证实，高滴度的自身抗体可穿透视网膜，影响靶抗原的功能，导致视网膜功能障碍和变性。抗恢复素和抗烯醇化酶α-烯醇化酶自身抗体在AR中更常见，但也记录了具有其他特异性的自身抗体，表明免疫异质性。我们的目标是研究抗视网膜自身抗体与视网膜病变的关系，以确定分子生物标志物，更好地诊断和预后视网膜病变。在这些研究中，我们检查了39例患者（10例癌症患者），平均年龄为1.57岁，突然发生不明原因的进行性视力丧失，并存在针对40 kDa视网膜蛋白的循环血清自身抗体。患者呈现以视野缺陷和暗视ERG反应降低为特征的视网膜表型。抗40-kDa自身抗体对transducin-α的氨基端具有特异性。正常受试者的血清中均没有抗40-kDa自身抗体。总之，抗transducin-α自身抗体患者的临床表型不同于AR的其他表型。这些患者，通常是比例为102：1的女性，具有视杆（暗视）感光器功能缺陷，并且通常没有癌症，而抗恢复素表型与癌症和视杆和视锥功能的严重丧失相关，并且抗烯醇化酶视网膜病通常表现为视锥功能障碍，并且在癌症和非癌症患者中是相等的。我们的研究表明，抗转导蛋白自身抗体可作为视网膜表型的分子生物标志物，并可用于视网膜功能障碍和变性的进展。
Autoimmune retinopathies (AR) are uncommon retinal degenerations with vision loss associated with unique clinical symptoms and findings and with serum anti-retinal autoantibodies. The experimental and clinical studies corroborate that autoantibodies in high titers can penetrate into the retina affecting function of the target antigens, which leads to retinal dysfunction and degeneration. Anti-recoverin and anti-enolase α-enolase autoantibodies were more frequently recognized in AR but autoantibodies with other specificities have also been documented, indicating immunological heterogeneity. Our goal was to examine the associations of anti-retinal autoantibodies with retinopathy in order to identify molecular biomarkers for better diagnosis and prognosis of retinopathies. In these studies we examined 39 patients (10 with cancers) of average age of ∼57 years old with sudden onset of unexplained progressive vision loss and the presence of circulating serum autoantibodies against 40-kDa retinal protein. The patients presented the retinal phenotype characterized by defects in visual fields and reduced scotopic ERG responses. Anti-40-kDa autoantibodies had specificity to the amino terminus of transducin-α. None of the normal subjects' sera had anti-40-kDa autoantibodies. In conclusion, clinical phenotype of patients with anti-transducin-α autoantibodies differed from other phenotypes of AR. These patients, often women at a ratio ∼2:1, had defects in rod (scotopic) photoreceptor function and typically did not have cancers, whereas anti-recoverin phenotype is associated with cancer and severe loss of rod and cones function, and anti-enolase retinopathy typically presents with cone dysfunction and is equal in cancer and non-cancer patients. Our studies suggest that anti-transducin autoantibodies can serve as molecular biomarkers for retinal phenotypes and could be used for progression of retinal dysfunction and degeneration.
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