Parkinson's disease-linked Kir4.2 mutation R28C leads to loss of ion channel function.

ABSTRACT: Parkinson's disease (PD) is a complex, progressive neurodegenerative disorder driven by multiple pathogenetic factors, including oxidative stress, mitochondria dysfunction, neuroinflammation and ion imbalance. Recent evidence highlights the significant role of potassium channels in the pathophysiology of PD. We recently identified a PD-linked genetic mutation in the KCNJ15 gene (KCNJ15^p.R28C), encoding the inwardly rectifying potassium channel Kir4.2, within a four-generation family with familial PD. However, the role of the Kir4.2 channel in neurodegenerative diseases remains largely unexplored. This study aimed to elucidate the impact of the KCNJ15^p.R28C (Kir4.2^R28C) mutation on the biophysical and biochemical properties of Kir4.2. Employing Kir4.2-overex

SUBMITTER: Chen X 

PROVIDER: S-EPMC12206441 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature