Abu-Amero Khaled K, Azad Taif Anwar, Spaeth George L, Myers Jonathan, Katz L Jay, Moster Marlene, Bosley Thomas M
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Mol Vis. 2012;18:1421-7. Epub 2012 Jun 1.
To investigate the expression level of the optineurin gene (OPTN) in the blood of primary open angle glaucoma (POAG) patients to determine if altered expression is playing a role in primary open angle glaucoma systemically.
Patients (n=47) were eligible for inclusion if they met standard clinical criteria for POAG, including age greater than 40 years, intraocular pressure ≥21 mmHg in at least one eye before treatment, normal-appearing anterior chamber angles bilaterally on gonioscopy, and optic nerve injury characteristic of POAG. Control subjects (n=27) were recruited who were free from glaucoma by examination. DNA from patient was sequenced to look for possible mutations in the coding region of OPTN or its promoter. RNA was extracted from leukocytes of patients and controls and converted to cDNA by reverse transcriptase enzyme, and quantitative PCR was used to assess expression levels of OPTN and the β-globulin gene. The ratio of OPTN expression to β-globulin gene expression for POAG patients was compared to that of controls and to clinical characteristics of POAG patients.
No mutation(s) were detected in any of the patients after sequencing the full OPTN gene and its promoter region. Mean OPTN (p≤0.35), and β-globulin (p≤0.48) gene expression values were statistically similar in POAG patients and controls. OPTN/β-globulin (p≤0.83) ratios were also indistinguishable between POAG patients and controls. OPTN/β-globulin ratios were not significantly associated with age, sex, or ethnicity of patients within the POAG group. Similarly, OPTN/β-globulin ratios were not significantly affected by ethnicity or clinical parameters related to POAG severity including maximum intraocular pressure, vertical cup-to-disk ratio, static perimetry mean deviation, or static perimetry pattern standard deviation.
OPTN expression is not altered in the blood of POAG patients, suggesting that OPTN expression is not changed systemically and implying that other mechanisms are involved in POAG pathogenesis.
研究原发性开角型青光眼（POAG）患者血液中视神经病相关蛋白基因（OPTN）的表达水平，以确定表达改变是否在原发性开角型青光眼的全身病变中起作用。
符合POAG标准临床标准的患者（n = 47）纳入研究，标准包括年龄大于40岁、治疗前至少一只眼眼压≥21 mmHg、前房角镜检查双侧前房角外观正常以及具有POAG特征性的视神经损伤。通过检查招募无青光眼的对照受试者（n = 27）。对患者的DNA进行测序，以寻找OPTN编码区或其启动子中的可能突变。从患者和对照的白细胞中提取RNA，通过逆转录酶转化为cDNA，并使用定量PCR评估OPTN和β-球蛋白基因的表达水平。将POAG患者的OPTN表达与β-球蛋白基因表达的比值与对照进行比较，并与POAG患者的临床特征进行比较。
对整个OPTN基因及其启动子区域进行测序后，未在任何患者中检测到突变。POAG患者和对照的平均OPTN（p≤0.35）和β-球蛋白（p≤0.48）基因表达值在统计学上相似。POAG患者和对照之间的OPTN/β-球蛋白（p≤0.83）比值也无差异。POAG组内患者的OPTN/β-球蛋白比值与年龄、性别或种族无显著相关性。同样，OPTN/β-球蛋白比值不受种族或与POAG严重程度相关的临床参数影响，包括最高眼压、垂直杯盘比、静态视野平均偏差或静态视野模式标准偏差。
POAG患者血液中OPTN表达未改变，表明OPTN表达在全身未发生变化，这意味着POAG发病机制涉及其他机制。
