Abstract：
Hyperuricemia is a chronic metabolic disease caused by purine metabolism disorder. And several gene loci and transporter proteins that associated with uric acid transport functions have been identified. Retinol Dehydrogenase 12 (RDH12), recognized for its role in safeguarding photoreceptors, and our study investigated the potential impact of Rdh12 mutations on other organs and diseases, particularly hyperuricemia. We assessed Rdh12 mRNA expression levels in various tissues and conducted serum biochemical analyses in Rdh12-/- mice. Compared with the wild type, significant alterations in serum uric acid levels and kidney-related biochemical indicators have been revealed. Then further analysis, including quantitative RT-PCR of gene expression in the liver and kidney, highlighted variations in the expression levels of specific genes linked to hyperuricemia. And renal histology assessment exposed mild pathological lesions in the kidneys of Rdh12-/- mice. In summary, our study suggests that Rdh12 mutations impact not only retinal function but also contribute to hyperuricemia and renal disease phenotypes in mice. Our finding implies that individuals with Rdh12 mutations may be prone to hyperuricemia and gout, emphasizing the significance of preventive measures and regular examinations in daily life.
摘要：
高尿酸血症是由嘌呤代谢紊乱引起的慢性代谢性疾病。并且已经鉴定了与尿酸转运功能相关的几个基因位点和转运蛋白。视黄醇脱氢酶12(RDH12),因其在保护光感受器方面的作用而得到认可，我们的研究调查了Rdh12突变对其他器官和疾病的潜在影响，特别是高尿酸血症。我们评估了Rdh12mRNA在各种组织中的表达水平，并在Rdh12-/-小鼠中进行了血清生化分析。与野生型相比,已发现血清尿酸水平和肾脏相关生化指标的显着变化。然后进一步分析,包括肝脏和肾脏基因表达的定量RT-PCR，强调了与高尿酸血症相关的特定基因表达水平的变化。肾组织学评估暴露了Rdh12-/-小鼠肾脏中的轻度病理损伤。总之,我们的研究表明,Rdh12突变不仅影响小鼠的视网膜功能,而且导致高尿酸血症和肾脏疾病表型.我们的发现暗示Rdh12突变的个体可能容易患高尿酸血症和痛风。强调日常生活中预防措施和定期检查的重要性。
