肾脏调节尿酸排泄的分子机制

Molecular mechanisms in the regulation of uric acid excretion

痛风是长期嘌呤代谢紊乱所导致的一种炎症性关节炎,高尿酸血症是其发病的重要生物化学基础。全基因组关联研究及Meta分析等研究发现了许多导致高尿酸血症的基因,其中研究较为充分的包括SLC2A9、ABCG2以及SLC22A12。SLC2A9基因编码葡萄糖转运体9(GLUT-9),GLUT-9参与调节肾小管转运尿酸,在近端小管尿酸盐的重吸收中起重要作用。ABCG2编码ABCG2蛋白,在尿酸盐的顶端分泌中发挥作用。SLC22A12基因编码尿酸重吸收转运子1(URAT1),负责尿酸盐的重吸收。本文通过阐述这三个基因及其他一些基因与高尿酸血症的关系来探究肾脏调节尿酸排泄的分子机制。

Gout is a kind of inflammatory arthritis resulted from long term purine metabolic disturbance, with hyperurieaemia as its key biochemical basis. The genome-wide association studies （GWAS） and meta analysis have found many genes which are relevant with hyperuricaemia. Three of these genes have been studied sufficiently, including SLC2A9, ABCG2, and SLC22A12. SLC2A9 encodes GLUT-9, which participates in the regulation of uric acid reabsorption at the proximal tubule. ABCG2 protein plays a role in the process of the apical secretion of urate. SLC22A12 encodes URAT1, which is also responsible for the reabsorption of urate. In this paper, through discussing the relationship between these genes and hyperuricaemia, the molecular mechanisms about the regulation of uric acid excretion will be investigated.