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BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

Daudin, R.; Marechal, D.; Wang, Q.; Abe, Y.; Tsurugizawa, T.; Bourg, N.; Sartori, M.; Loe-Mie, Y.; Lipecka, J.; Guerrera, C.; McKenzie, A.; Potier, B.; Dutar, P.; Viard, J.; Lepagnol-Bestel, A.-M.; Winkeler, A.; Uszynski, I.; Hindie, V.; Birling, M.-C.; Lindner, L.; Chevalier, C.; Pavlovic, G.; Reiss, M.; Kranz, H.; Dupuis, G.; Leveque-Fort, S.; Diaz, J.; Davenas, E.; Dembele, D.; Atas-Ozcan, H.; Laporte, J.; Thibault-Carpentier, C.; Malissen, B.; Rain, J.-C.; Poupon, C.; Le Bihan, D.; Zhang, B.; Herault, Y.; Ciobanu, L.; Simonneau, M.

2021-03-08 neuroscience
10.1101/437228 bioRxiv
Show abstract

Genetic factors are known to contribute to Late Onset Alzheimers disease (LOAD) but their contribution to pathophysiology, specially to prodomic phases accessible to therapeutic approaches are far to be understood. To translate genetic risk of Alzheimers disease (AD) into mechanistic insight, we generated transgenic mouse lines that express a [~]195 kbp human BAC that includes only BIN1, a gene associated to LOAD. This model gives a modest BIN1 overexpression, dependent of the number of BAC copies. At 6 months of age, we detected impaired entorhinal cortex (EC)-hippocampal pathways with specific impairments in EC-dentate gyrus synaptic long-term potentiation, dendritic spines of granular cells and recognition episodic memory. Structural changes were quantified using MRI. Their whole-brain functional impact were analyzed using resting state fMRI with a hypoconnectivity centered on entorhinal cortex. These early phenotype defects independent of any changes in A-beta can be instrumental in the search for new AD drug targets.

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