Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.

ABSTRACT:

Purposes

This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na-Cl co-transporter (hNCC), and to test the activity of these mutations and some novel mutations in vitro and in vivo.

Methods

SLC12A3 gene mutations in Chinese GS patients previously reported in the PubMed, China National Knowledge Infrastructure, and Wanfang database were summarized. Predicted configurations of wild type (WT) and mutant proteins were achieved using the I-TASSER workplace. Six missense mutations (T60M, L215F, D486N, N534K, Q617R, and R928C) were generated by site-directed mutagenesis. 22Na+ uptake experiment was carried out in the Xenopus laevisoocyte expression system. In the

SUBMITTER: Jiang L 

PROVIDER: S-EPMC8859957 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature