Identification of BAG5 as a Potential Biomarker for Parkinson's Disease Patients With R492X PINK1 Mutation.

ABSTRACT: Parkinson's disease (PD) is a degenerative, progressive nervous system disorder with an unknown cause. PINK1 [phosphatase and tensin homolog deleted on chromosome 10 (PTEN)-induced putative kinase 1] causative mutations R492X may cause autosomal recessive early-onset parkinsonism. In this study, we utilized patient samples and cell line system to investigate roles of Bcl2-associated athanogene 5 (BAG5) in PD patients with R492X PINK1 mutation. We show that the expression levels of BAG5 in the skin tissues from PD patients with R492X PINK1 mutation are markedly lower than those from the healthy control subjects in a small cohort of patients, which has not been recognized before. In addition, we demonstrate that BAG5 physically binds to R492X mutated PINK1 protein. Furth

SUBMITTER: Fu Y 

PROVIDER: S-EPMC9363588 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature