Stadnikova Andrea, Dudakova Lubica, Skalicka Pavlina, Valenta Zdenek, Filipec Martin, Jirsova Katerina
Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
PLoS One. 2017 Apr 17;12(4):e0175509. doi: 10.1371/journal.pone.0175509. eCollection 2017.
Posterior polymorphous corneal dystrophy (PPCD) is characterized by abnormal proliferation of corneal endothelial cells. It was shown that TGF-β2 present in aqueous humor (AH) could help maintaining the corneal endothelium in a G1-phase-arrest state. We wanted to determine whether the levels of this protein are changed in AH of PPCD patients.
We determined the concentrations of active TGF-β2 in the AH of 29 PPCD patients (42 samples) and 40 cadaver controls (44 samples) by ELISA. For data analysis the PPCD patients were divided based on either the molecular genetic cause of their disease as PPCD1 (37 samples), PPCD3 (1 sample) and PPCDx (not linked to a known PPCD loci, 4 samples) or on the presence (17 samples) or absence (25 samples) of secondary glaucoma or on whether they had undergone penetrating keratoplasty (PK, 32 samples) or repeated PK (rePK, 7 samples).
The level of active TGF-β2 in the AH of all PPCD patients (mean ± SD; 386.98 ± 114.88 pg/ml) in comparison to the control group (260.95 ± 112.43 pg/ml) was significantly higher (P = 0.0001). Compared to the control group, a significantly higher level of active TGF-β2 was found in the PPCD1 (P = 0.0005) and PPCDx (P = 0.0022) groups. Among patients the levels of active TGF-β2 were not significantly affected by gender, age, secondary glaucoma or by the progression of dystrophy when one or repeated PK were performed.
The levels of active TGF-β2 in the AH of PPCD patients are significantly higher than control values, and thus the increased levels of TGF-β2 could be a consequence of the PPCD phenotype and can be considered as another feature characterizing this disease.
后极性多形性角膜营养不良（PPCD）的特征是角膜内皮细胞异常增殖。研究表明，房水中存在的转化生长因子-β2（TGF-β2）可帮助角膜内皮细胞维持在G1期阻滞状态。我们想确定该蛋白水平在PPCD患者的房水中是否发生变化。
我们通过酶联免疫吸附测定法（ELISA）测定了29例PPCD患者（42份样本）和40例尸体对照（44份样本）房水中活性TGF-β2的浓度。为了进行数据分析，PPCD患者根据其疾病的分子遗传原因分为PPCD1（37份样本）、PPCD3（1份样本）和PPCDx（与已知PPCD基因座无关，4份样本），或根据是否存在继发性青光眼（17份样本）或不存在继发性青光眼（25份样本），或根据他们是否接受过穿透性角膜移植术（PK，32份样本）或重复穿透性角膜移植术（rePK，7份样本）进行分组。
与对照组（260.95±112.43 pg/ml）相比，所有PPCD患者房水中活性TGF-β2的水平（平均值±标准差；386.98±114.88 pg/ml）显著更高（P = 0.0001）。与对照组相比，PPCD1组（P = 0.0005）和PPCDx组（P = 0.0022）中活性TGF-β2的水平显著更高。在患者中，活性TGF-β2的水平不受性别、年龄、继发性青光眼的影响也不受进行一次或重复PK时营养不良进展的影响。
PPCD患者房水中活性TGF-β2的水平显著高于对照值，因此TGF-β2水平升高可能是PPCD表型的结果，可被视为该疾病的另一个特征。
