Human genetic studies consistently show the T185S variant is protective in FTLD-GRN carriers, yet this study found no protective effect in Grn knockout mice. This species-specific discordance suggests critical differences in disease mechanisms or variant function that could impact translational research. Gap type: contradiction Source paper: Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration. (2023, Acta neuropathologica communications, PMID:36707901)
Landscape Summary: Why does the protective TMEM106B T185S variant fail to show protection in mouse models despite human genetic evidence? is a 0.82 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
Why does the protective TMEM106B T185S variant fail to show protection in mouse models despite human genetic evidence? — INVOKE-2 (completed)
No hypotheses linked to this gap yet.
No activity recorded yet.
No discussions yet. Be the first to comment.
Create sub-tasks to investigate specific aspects of this gap: