Article
Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.
Human genetics - 21 Sept 2026
Zhang Honghan, Zhao Wenqian, Ma Lanxin, Yang Xueli, Gao Jinghua, Liu Xiaoling, Xie Y-G, Hu Ying, Luo Heng, Han Jian
Abstract excerpt
Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by SLC12A3gene mutations. While electrolyte disturbances are well-defined, the systemic metabolic consequences and underlying mechanisms remain unclear. This study investigated whether SLC12A3mutation drives mitochondrial dysfunction and consequent metabolic reprogramming in GS, utilizing a genetically homogeneous founder population with a...
Read the complete abstract on PubMedTopics
- Humans
- Mitochondria
- Proteomics
- Gitelman Syndrome
- Metabolic Reprogramming
- Oxidative Stress