Single cell transcriptomics reveals enrichment of aggregation-prone alpha-synuclein isoforms across synucleinopathies.

ABSTRACT: Alpha-synuclein (α-Syn) is the primary component of Lewy bodies, the pathological hallmark of neurodegenerative synucleinopathies, including Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Dysregulated expression of its encoding gene, SNCA, has been identified in association with both PD and DLB in short-read sequencing studies. However, such studies do not capture variation in transcript isoforms expressed. Here we combine for the first time SNCA-targeted long-read multiplexed arrays isoform sequencing (MAS-Iso-seq) with unbiased short-read single nucleus (sn) RNA-seq for simultaneous characterization of the SNCA transcript isoform landscape and mapping of isoform expression to specific cell types and subtypes in PD, DLB, and control sample cortical tiss

SUBMITTER: Shwab EK 

PROVIDER: S-EPMC12632898 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature