高尿酸血症
痛风
有机阴离子转运蛋白1
尿酸
溶质载体族
化学
生物化学
医学
生物
作者
Jiří Vávra,Andrea Mančíková,Kateřina Pavelcová,Lenka Hasíková,Jana Bohatá,Blanka Stibůrková
出处
期刊:Cells
[MDPI AG]
日期:2022-03-22
卷期号:11 (7): 1063-1063
被引量:8
标识
DOI:10.3390/cells11071063
摘要
The OAT1 (SLC22A6) and OAT3 (SLC22A8) urate transporters are located on the basolateral membrane of the proximal renal tubules, where they ensure the uptake of uric acid from the urine back into the body. In a cohort of 150 Czech patients with primary hyperuricemia and gout, we examined the coding regions of both genes using PCR amplification and Sanger sequencing. Variants p.P104L (rs11568627) and p.A190T (rs146282438) were identified in the gene for solute carrier family 22 member 6 (SLC22A6) and variants p.R149C (rs45566039), p.V448I (rs11568486) and p.R513Q (rs145474422) in the gene solute carrier family 22 member 8 (SLC22A8). We performed a functional study of these rare non-synonymous variants using the HEK293T cell line. We found that only p.R149C significantly reduced uric acid transport in vitro. Our results could deepen the understanding of uric acid handling in the kidneys and the molecular mechanism of uric acid transport by the OAT family of organic ion transporters.
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