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Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner

bioRxiv, ISSN: 2692-8205
2019
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Article Description

Although APP metabolism is being intensively investigated, a large fraction of its modulators are yet to be characterized. In this context, we combined two genome-wide high-content screenings to assess the functional impact of miRNAs and genes on APP metabolism and the signaling pathways involved. This approach highlighted the involvement of FERMT2 (or Kindlin-2), a genetic risk factor of Alzheimer’s disease (AD), as a potential key modulator of axon guidance; a neuronal process dependent on the APP metabolism regulation. We found that FERMT2 directly interacts with APP to modulate its metabolism and that FERMT2 under-expression impacts axonal growth, synaptic connectivity and long-term potentiation in an APP-dependent manner. Lastly, the rs7143400-T allele, which is associated with an increased AD risk and localized within the 3’UTR of FERMT2, induced a down-regulation of FERMT2 expression through binding of miR-4504. This miRNA is mainly expressed in neurons and significantly overexpressed in AD brains compared to controls. Altogether, our data provide strong evidence for a detrimental effect of FERMT2 under-expression in neurons and insight on how this may influence AD pathogenesis.

Bibliographic Details

Eysert, Fanny; Coulon, Audrey; Boscher, Emmanuelle; Vreulx, Anaїs-Camille; Flaig, Amandine; Mendes, Tiago; Hughes, Sandrine; Grenier-Boley, Benjamin; Hanoulle, Xavier; Demiautte, Florie; Bauer, Charlotte; Marttinen, Mikael; Takalo, Mari; Amouyel, Philippe; Desai, Shruti; Pike, Ian; Hiltunen, Mikko; Chécler, Frédéric; Farinelli, Mélissa; Delay, Charlotte; Malmanche, Nicolas; Hébert, Sébastien; Dumont, Julie; Kilinc, Devrim; Lambert, Jean-Charles; Chapuis, Julien

Cold Spring Harbor Laboratory

Biochemistry, Genetics and Molecular Biology; Agricultural and Biological Sciences; Immunology and Microbiology; Neuroscience; Pharmacology, Toxicology and Pharmaceutics

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