Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy in humans and is associated with a predisposition to hemolysis. However, there are few animal models to that adequately mimic associated human disease states that could be used to evaluate strategies to address clinical syndromes attributable to G6PD deficiency. In the present study, we aimed to establish a stable transgenic zebrafish model of G6PD deficiency that recapitulates the clinical manifestations of G6PD deficiency. We incorporated a stable transgene of G6PD lacking nucleotides from 1315 to 1443 denoted Tg(zgata1:g6pd^M1315-1443-egfp). Functional analysis showed that Tg(zgata1:g6pd^M1315-1443-egfp) transgenic zebrafish demonstrate a decrease in g6pd activity, reduced GSH levels and hemoglobin content, and increases in pericardial edema in response to α-naphthol exposure, similar to human subjects with G6PD deficiency. We detected no other significant phenotypic abnormalities compared to controls. Taken together, these observations indicate that the Tg(zgata1:g6pd^M1315-1443-egfp) zebrafish line mirrors key clinical manifestations of G6PD deficiency in humans. This model may facilitate mechanistic studies and promote translational research related to G6PD deficiency.

中文翻译：

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葡萄糖-6-磷酸脱氢酶缺乏症的稳定转基因g6pdM1315-1443斑马鱼品系的建立

6-磷酸葡萄糖脱氢酶（G6PD）缺乏症是人类最常见的遗传性酶病，与溶血的易感性有关。但是，很少有动物模型能够充分模拟相关的人类疾病状态，可用于评估应对因G6PD缺乏而引起的临床综合征的策略。在本研究中，我们旨在建立一个稳定的G6PD缺乏症的转基因斑马鱼模型，该模型概括了G6PD缺乏症的临床表现。我们并入了一个稳定的G6PD转基因，该基因缺少从1315至1443表示为Tg的核苷酸（zgata1：g6pd ^M1315-1443 - egfp）。功能分析表明Tg（zgata1：g6pd ^M1315-1443- EGFP）转基因斑马鱼表现出响应于α萘酚曝光，类似于G6PD缺乏症的人类受试者中G6PD活性在心包水肿的降低，降低的GSH水平和血红蛋白含量，和增大。与对照组相比，我们没有发现其他明显的表型异常。综上所述，这些观察结果表明，Tg（zgata1：g6pd ^M1315-1443 - egfp）斑马鱼品系反映了人类G6PD缺乏症的关键临床表现。该模型可以促进机制研究并促进与G6PD缺乏症相关的转化研究。