ArticleHuman molecular genetics2013
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 61 citations in OpenAlex.
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- Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.Cell death & disease · 2019Article
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- SIV-Mediated Synaptic Dysfunction Is Associated with an Increase in Synapsin Site 1 Phosphorylation and Impaired PP2A Activity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Neurite-Enriched MicroRNA-218 Stimulates Translation of the GluA2 Subunit and Increases Excitatory Synaptic Strength.Molecular neurobiology · 2019Article
- Postsynaptic Mechanisms Render Syn I/II/III Mice Highly Responsive to Psychostimulants.The international journal of neuropsychopharmacology · 2019Article
- Synapsin I Controls Synaptic Maturation of Long-Range Projections in the Lateral Amygdala in a Targeted Selective Fashion.Frontiers in cellular neuroscience · 2019Article
- meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.PLoS computational biology · 2018Article
- Effects of SYN1Human brain mapping · 2018Article
- REST-Dependent Presynaptic Homeostasis Induced by Chronic Neuronal Hyperactivity.Molecular neurobiology · 2018Article
- Synapsin I and Synapsin II regulate neurogenesis in the dentate gyrus of adult mice.Oncotarget · 2018Article
- The Role of Synapsins in Neurological Disorders.Neuroscience bulletin · 2018Review
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene have a causal role in idiopathic epilepsy and autism. To get insights into the mechanisms of epileptogenesis linked to SYN1 mutations, we analyzed the effects of the recently identified Q555X mutation on neurotransmitter release dynamics and short-term plasticity (STP) in excitatory and inhibitory synapses. We used patch-clamp electrophysiology coupled to electron microscopy and multi-electrode arrays to dissect synaptic transmission of primary SynI KO hippocampal neurons in which the human wild-type and mutant SynI were expressed by lentiviral transduction. A parallel decrease in the SV readily releasable pool in inhibitory synapses and in the release probability in excitatory synapses caused a marked reduction in the evoked synchronous release. This effect was accompanied by an increase in asynchronous release that was much more intense in excitatory synapses and associated with an increased total charge transfer. Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. These changes were associated with higher network excitability and firing/bursting activity. Our data indicate that imbalances in STP and release dynamics of inhibitory and excitatory synapses trigger network hyperexcitability potentially leading to epilepsy/autism manifestations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.