Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology - PubMed
5 days ago
- #TDP-43 pathology
- #transcriptomics
- #frontotemporal lobar degeneration
- Study focuses on transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology (FTLD-TDP C).
- Bulk RNA sequencing was conducted on temporal cortices of 18 FTLD-TDP C patients and 23 controls.
- Findings include upregulation of damage response, cell structure, RNA splicing processes, and downregulation of synaptic processes.
- TARDBP-related genes were enriched in differentially expressed genes (DEG).
- Postsynaptic processes remained dysregulated after adjusting for cell type composition and removing tauopathy-related genes.
- Eleven synaptic FTLD-TDP C-specific genes were identified, involved in synaptic adhesion, signal transmission, and synaptic plasticity.
- Dysregulation of TARDBP-related genes and RNA splicing is common in other TDP-43 proteinopathies.
- Future research could elucidate distinct pathophysiological mechanisms and guide targeted clinical approaches.