摘要： 目的 对导致原发性Ⅰ型肾小管酸中毒的SLC4A1基因突变R388C致病机制进行细胞学研究。方法 构建SLC4A1基因的野生型和突变型表达质粒，通过在HEK-293细胞中表达质粒，分析突变蛋白的致病机制。结果 成功构建了SLC4A1基因的野生型和突变型表达质粒，转染至HEK-293细胞中发现，突变型蛋白无法转运到细胞表面，从而影响了其发挥正常的功能。结论 SLC4A1基因的R388C突变系通过影响蛋白的正常传输而导致原发性Ⅰ型肾小管酸中毒。

导致原发性Ⅰ型肾小管酸中毒的SLC4A1突变R388C致病机制的细胞学研究

潘鑫, 李亚彩, 王晓黎

中国医科大学附属第一医院内分泌科, 内分泌研究所, 辽宁省内分泌疾病重点实验室, 沈阳 110001

收稿日期:2019-11-01出版日期:2020-08-30发布日期:2020-08-04
通讯作者:王晓黎E-mail:wlittlepear@163.com
作者简介:潘鑫(1994-),女,硕士研究生.
基金资助:辽宁省教育厅重点实验室基础研究项目（LS201615）


关键词: Ⅰ型肾小管酸中毒, 遗传性远端肾小管酸中毒, SLC4A1基因, 低钾血症
Abstract: Objective To explore the mechanism of SLC4A1 gene mutation R388C that lead to primary typeⅠtubular acidosis by cell experiments. Methods Wild-type and mutant expression plasmids of SLC4A1 gene were constructed,and the mechanism of the mutant protein was analyzed by expressing plasmids in HEK-293 cells. Results The wild-type and mutant expression plasmids of SLC4A1 gene were successfully constructed and transfected into HEK-293 cells. The mutant protein could not be transported to the cell surface,which affected its normal function. Conclusion The R388C mutant of SLC4A1 gene leads to primary typeⅠtubular acidosis by affecting the normal transport of the protein.
Key words: typeⅠtubular acidosis, hereditary distal renal tubular acidosis, SLC4A1 gene, hypokalemia
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