This study investigates the role of C9orf72 in regulating excitatory synapses and its interaction with synapsin proteins. Using C9orf72 Knockout mice, the researchers demonstrated that loss of C9orf72 leads to a reduction in excitatory synapse number, decreased synapsin levels at synapses, and impaired synaptic vesicle pools. Electrophysiological recordings revealed deficits in excitatory neurotransmission. Additionally, post-mortem analysis of ALS/FTD patient hippocampus showed reduced synapsin levels, suggesting that disruption of the C9orf72-synapsin interaction contributes to disease pathogenesis.
C9orf72 deficiency impairs excitatory synaptic function by disrupting synapsin-mediated synaptic vesicle regulation, contributing to synaptic dysfunction observed in ALS/FTD.
C9orf72 Knockout (KO) mouse model, generated via targeted gene deletion to study the effects of C9orf72 deficiency in vivo.
Amyotrophic lateral sclerosis (ALS), Frontotemporal dementia (FTD), Synaptic dysfunction, C9orf72, Synapsin
Knockout mouse model, Targeted gene deletion, Synaptic protein interaction studies, Electrophysiological analysis
From model design to experimental results
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