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在SLC16A9/hMCT9中单核酸多态的分子特性分析

Atsushi Yamaguchi¹, Yuto Mukai², Tomoya Sakuma²

¹Department of Pharmacy, Hokkaido University Hospital, Kita-14-Jo, Nishi-5-Chome, Kita-ku, Sapporo 060-8648, Japan; Laboratory of Clinical Pharmaceutics & Therapeutics, Division of Pharmasciences, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita-12-Jo, Nishi-6-Chome, Kita-ku, Sapporo 060-0812, Japan.

|October 25, 2023

概括

人类单核酸转运体9 (hMCT9) 单核酸多态 (SNP) rs550527563 (L93M) 和rs2242206 (T258K) 影响肌酸和尿酸的运输. 这些hMCT9变种可能会导致高尿血和痛风.

科学领域:

生物化学生化学
分子生物学分子生物学
遗传学遗传学是一个

背景情况:

由SLC16A9编码的人类单碳酸盐载体9 (hMCT9) 促进了跨膜肌酸运输.
hMCT9表现出具有两个组成部分的细胞外pH和Na+敏感动力学.
某些hMCT9变异与血清尿酸水平,尿血过高和痛风有关,包括SNPs rs550527563 (L93M) 和rs2242206 (T258K).

研究的目的:

研究hMCT9 L93M和T258K单核酸多态 (SNP) 对肌酸和尿酸运输特性的影响.
阐明这些SNP影响hMCT9功能的分子机制.

主要方法:

用于构建hMCT9 L93M和T258K变体的网站导向突变发生.
在异构表达研究的Xenopus laevis卵细胞中表达了变异.
使用Xenopus laevis卵细胞系统测量尿酸和肌酸的运输活性.

主要成果:

与对照组相比,表达hMCT9的卵细胞的尿酸运输量是3到4倍.
L93M SNP略有降低了肌酸运输活性.
T258K SNP 取消了 Na+ 敏感性,并将基质亲和力从两个组件转移到一个.

结论:

hMCT9 SNPs显著改变传送器活动和动力特性.
已识别的hMCT9SNP (L93M和T258K) 可能导致输送器功能障碍.
这些分子变化为hMCT9对高尿血和痛风等病理的贡献提供了潜在的基础.

关键词:

肌酸蛋白是什么意思肌酸蛋白是什么意思单碳氧酸盐输送体9 9 在SLC16A9A9中,它是SLC16A9A9.单核酸多态性的一种多态性.尿酸是什么尿酸是什么一个Xenopus laevis的卵细胞.

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