The abstract is read at the publisher; the summary is JClub's.
In temporal cortex from 18 FTLD-TDP C patients, 6322 differentially expressed genes and five disease-related WGCNA modules show downregulated postsynaptic processes after tau-gene removal and cell deconvolution.
- Why it matters: FTLD-TDP C is sporadic but clinically and pathologically homogeneous, implying shared mechanisms that remain unclear. Identifying dysregulated pathways could clarify disease biology and inform targeted approaches.
- What they did: Bulk RNA sequencing compared temporal cortices from 18 FTLD-TDP C cases versus 23 sex- and age-matched controls, using DEGs with FDR < 0.05 plus functional enrichment and SynGO. WGCNA was run with cell deconvolution, and genes dysregulated in other datasets were removed; TARDBP interactors and RNA targets were also tested.
- The result: TARDBP-related genes were enriched, with damage response, cell structure, and RNA splicing upregulated and synaptic processes downregulated in 6322 DEGs and five modules. After tau-gene removal and deconvolution, postsynaptic receptor assembly and synaptic signal transmission remained dysregulated at both RNA and protein levels for 11 FTLD-TDP C-specific genes.
The findingWhy it mattersWhat they didThe result
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