Genetic evidence of aberrant striatal synaptic maturation and secretory pathway alteration in a dystonia mouse model.

ABSTRACT: Animal models of DYT-TOR1A dystonia consistently demonstrate abnormalities of striatal cholinergic function, but the molecular pathways underlying this pathophysiology are unclear. To probe these molecular pathways in a genetic model of DYT-TOR1A, we performed laser microdissection in juvenile mice to isolate striatal cholinergic interneurons and non-cholinergic striatal tissue largely comprising spiny projection neurons during maturation. Both cholinergic and GABAergic enriched samples demonstrated a defined set of gene expression changes consistent with a role of torsinA in the secretory pathway. GABAergic enriched striatum samples also showed alteration to genes regulating synaptic transmission and an upregulation of activity dependent immediate early genes. Reconstruction of Golgi-Cox

SUBMITTER: Yellajoshyula D 

PROVIDER: S-EPMC9980434 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature