Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6.

ABSTRACT: Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that manifests in midlife and progressively worsens with age. SCA6 is rare, and many patients are not diagnosed until long after disease onset. Whether disease-causing cellular alterations differ at different disease stages is currently unknown, but it is important to answer this question in order to identify appropriate therapeutic targets across disease duration. We used transcriptomics to identify changes in gene expression at disease onset in a well-established mouse model of SCA6 that recapitulates key disease features. We observed both up- and down-regulated genes with the major down-regulated gene ontology terms suggesting mitochondrial dysfunction. We explored mitochondrial function and structure and observed that

SUBMITTER: Leung TCS 

PROVIDER: S-EPMC10824820 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature