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。
Objective To explore the mechanism of SLC4 A1 gene mutation R388 C that lead to primary typeⅠtubular acidosis by cell experiments. Methods Wild-type and mutant expression plasmids of SLC4 A1 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 SLC4 A1 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 R388 C mutant of SLC4 A1 gene leads to primary typeⅠtubular acidosis by affecting the normal transport of the protein.
作者
潘鑫
李亚彩
王晓黎
PAN Xin;LI Yacai;WANG Xiaoli(Department of Endocrinology and Metabolism,Institute of Endocrinology,Liaoning Provincial Key Laboratory of Endocrine Diseases,The First Hospital,China Medical University,Shenyang 110001,China)
出处
《中国医科大学学报》
CAS
CSCD
北大核心
2020年第8期743-746,共4页
Journal of China Medical University
基金
辽宁省教育厅重点实验室基础研究项目(LS201615)。
