Search bioRxiv⌕ Search

Biology subjects

Parnavelas, J.

Publications and source records attributed to Parnavelas, J..

2 recordsLinked to original sources

The adaptor protein DAB2 cell-autonomously links APOE with disease-associated microglia (DAM)/TREM2 state dysregulation associated with Alzheimer's disease

The neuron-secreted Reelin (RELN) protein and its adaptor DAB1 modify Alzheimer's disease (AD) risk through genetic interaction with APOE4. While RELN and APOE4 exert antagonistic effects on amyloid and Tau pathology in mice, how risk is conferred in the human brain remains unclear. The related adaptor DAB2 endocytoses RELN/APOE receptors and, via LRP8, modulates non-canonical pro-inflammatory signalling in non-neuronal cells. We hypothesised that RELN and APOE signalling directly influence microglial function to modify AD risk. Integrating human brain transcriptomics, a Reln-deficient mouse, and DAB1/DAB2 knock-down in APOE isogenic iPSC-microglia, we found that microglial DAB1/DAB2 pathways were dynamically regulated across the lifespan, with DAB2 dysregulated with increasing amyloid pathology. DAB2 transcriptional networks correlated with disease- and lipid- associated microglial states (DAM/LDAM) linked to networks expressing dementia-risk loci (TREM2, GRN, ACE, SORL1) and associated with endolysosomal and lipid-handling pathways. DAB2- knockdown cell-autonomously shifted microglia away from gene networks enriched in DAM/TREM2 states and towards pro-inflammatory cytokine-responsive states and TNFNF{kappa}B pathways. APOE4/E4 microglia showed elevated APOE and reduced DAB1pY232 under inflammatory stress, and blunted DAB2-knockdown transcriptomic responses, consistent with pathway-level genetic interaction. In vivo, RELN-deficiency reduced microglial ramification and increased CD68. These findings identify DAB2 as a regulator of microglial state transitions and a modifier of dementia-risk networks linking APOE genotype to inflammatory, phagocytic and amyloid-beta clearance pathways relevant to AD.

neuroscience↗

Endothelial Slit2 guides the Robo1-positive sympathetic innervation during heart development

Axon guidance cues direct nerves in the heart during development, disease and regeneration. These cues determine cardiac innervation patterning by regulating the balance between chemo-attraction and chemo-repulsion. However, the role of one of the most crucial ligand-receptor combinations among axon guidance molecules, the Slit chemo-active ligands and their Roundabout (Robo) transmembrane receptors, remains unknown during cardiac innervation patterning. To test if Slit-Robo signalling is important for cardiac innervation guidance, we analysed Slit and Robo mouse knock-outs. Constitutive Slit2-/- ventricles showed significantly reduced innervation, while Slit3-/- hearts showed temporary increased levels of innervation compared to wild-type littermate controls. Whereas innervation was not affected in Robo2-/- mice, the phenotype seen in Slit2-/- ventricles was recapitulated in Robo1-/- mice. Detailed expression analysis identified expression of Slit2 ligand in the endothelium of the coronary vessels, while Slit3 was highly present in the coronary smooth muscle wall and in the innervation. Both the Robo1 and Robo2 receptors were present in the nerves and at low levels in the vessels. Knocking out Slit2 specifically in the endothelium recapitulated the defects seen in the constitutive Slit2-/- hearts. Ex vivo axon guidance cultures showed that attraction of axons extending from the ganglia was strongly reduced in ventricles with absence of endothelial Slit2 compared to wild-type controls. In absence of endothelial Slit2, adult mice showed reduced response to challenging the sympathetic innervation. In conclusion, we have identified an important new chemo-active Slit2-Robo1 pathway required for correct cardiac innervation development.

developmental biology↗