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Borgkvist, A.

Publications and source records attributed to Borgkvist, A..

6 recordsLinked to original sources

DARPP-32 in motor cortex regulates structural and synaptic plasticity in corticothalamic neurons and enables motor learning.

The dopamine and cAMP-regulated phosphoprotein of 32 kDa (DARPP-32), a key mediator of monoaminergic signaling, is expressed in the cortex; however, its cellular distribution and role in cortically dependent behaviors remain elusive. Here, we determined the functional integration of DARPP-32 in motor cortex circuitry using molecular profiling, circuit tracing, patch-clamp electrophysiology, virus-assisted gene targeting and motor behavior analyses. Unlike the significant overlap between DARPP-32 and dopamine receptors in striatal GABAergic medium spiny projection neurons, we found that the majority of DARPP-32-positive cortical neurons express the corticothalamic marker FoxP2 but not dopamine D1 or D2 receptors. Notably, in cortical slices, adenylyl cyclase activation induced a more robust increase in DARPP-32 phosphorylation at threonine 34, a protein kinase A target site, compared to dopamine D1 receptor stimulation. Conditional ablation of DARPP-32 in the motor cortex did not affect basal or psychostimulant-induced motor activity but reduced motor aptitude and compromised overnight retention of motor skill. Concomitantly, the absence of DARPP-32 reduced dendritic spines density and prevented the induction of glutamatergic long-term potentiation in layer 6 motor cortical neurons. Altogether, our study demonstrates a critical role for DARPP-32 in cortical synaptic plasticity, emphasizing its importance in corticothalamic regulation of motor skill learning.

neuroscience↗

Altered striatal long-term potentiation in the eIF4E- TG ASD mouse model

Autism spectrum disorder (ASD) is associated with deficits in synaptic plasticity across brain regions. While striatal dysfunction is observed in various mouse models of ASD, the effect of ASD-associated genes on striatal plasticity has not been well characterised. We previously showed that overexpression of the SFARI ASD risk gene eIF4E in transgenic (eIF4E-TG) mice produces ASD-like behaviours and impairs dorsal striatal dopamine release. Here, we examined whether eIF4E overexpression alters striatal synaptic transmission and plasticity. Using microscopy, whole-cell electrophysiology, optogenetics and fast-scan cyclic voltammetry, we assessed dendritic morphology and excitatory synaptic properties of spiny projection neurons (SPNs). The eIF4E-TG mice exhibited higher dendritic spine density, elevated AMPA and NMDA receptor-mediated mEPSC frequency, and reduced AMPA mEPSC amplitude. We also observed an increased induction rate and magnitude of long-term potentiation (LTP) in SPNs, which is NMDA receptor-dependent but is not prevented by pharmacological D1 or D2 receptor antagonism under the conditions tested. Finally, we found that somatic and dendritic Ca2+ signals evoked by brief depolarisation are altered in SPNs from eIF4E-TG mice. Together, these findings are consistent with eIF4E overexpression promoting an NMDA receptor-dependent form of striatal LTP that is not prevented by D1/D2 receptor antagonism.

neuroscience↗

Postnatal reduction of eIF4E overexpression in D1-SPNs ameliorates KCNQ dysfunction, hyperexcitability and ASD-like behaviours.

An imbalance between the direct and indirect pathways of the striatum has been implicated in the pathophysiology of ASD, which corresponds with an increase in repetitive behaviours and hyperactivity. The ASD risk gene EIF4E promotes translation, and its overexpression in mice increases repetitive behaviours and hyperactivity. We used the eIF4E-transgenic mouse model of ASD to study cell-type specific disruptions in the direct and indirect pathways using fibre photometry, electrophysiology, conditional gene silencing, and behavioural analysis. We found that direct pathway SPNs activity increased during exploratory behaviour and identified D1-SPN hyperexcitability and reduced KCNQ channel function in striatal slices. Reduction of eIF4E specifically in the D1-SPNs of adult mice normalised KCNQ function, D1-SPN hyperexcitability and ameliorated repetitive and hyperactive behaviours. Our results highlight the critical role of eIF4E in ASD-associated motor behaviours, elucidate cell-specific mechanisms driving hyperactivity and provide new insight into potential therapeutic targets for ASD and other neurodevelopmental disorders. Overall, this study underscores the translational potential of modulating protein synthesis pathways to address core motor symptoms in ASD.

neuroscience↗

5-HT1B receptors mediate dopaminergic inhibition of vesicular fusion and GABA release from striatonigral synapses.

The substantia nigra pars reticulata (SNr), a crucial basal ganglia output nucleus, contains a dense expression of dopamine D1 receptors (D1Rs), along with dendrites belonging to dopaminergic neurons of substantia nigra pars compacta. These D1Rs are primarily located on the terminals of striatonigral medium spiny neurons, suggesting their involvement in the regulation of neurotransmitter release from the direct pathway in response to somatodendritic dopamine release. To explore the hypothesis that D1Rs modulate GABA release from striatonigral synapses, we conducted optical recordings of striatonigral activity and postsynaptic patch-clamp recordings from SNr neurons in the presence of dopamine and D1R agonists. We found that dopamine inhibits optogenetically triggered striatonigral GABA release by modulating vesicle fusion and Ca2+ influx in striatonigral boutons. Notably, the effect of DA was independent of D1R activity but required activation of 5-HT1B receptors. Our results suggest a serotonergic mechanism involved in the therapeutic actions of dopaminergic medications for Parkinsons disease and psychostimulant-related disorders.

neuroscience↗

Dysregulated acetylcholine-mediated dopamine neurotransmission in the eIF4E Tg mouse model of autism spectrum disorders.

Autism Spectrum Disorders (ASD) consist of diverse neurodevelopmental conditions where core behavioral symptoms are critical for diagnosis. Altered dopamine neurotransmission in the striatum has been suggested to contribute to the behavioral features of ASD. Here, we examine dopamine neurotransmission in a mouse model of ASD characterized by elevated expression of the eukaryotic initiation factor 4E (eIF4E), a key regulator of cap-dependent translation, using a comprehensive approach that encompasses genetics, behavior, synaptic physiology, and imaging. The results indicate that increased eIF4E expression leads to behavioral inflexibility and impaired striatal dopamine release. The loss of normal dopamine neurotransmission is due to a defective nicotinic receptor signaling that regulates calcium dynamics in dopaminergic axons. These findings reveal an intricate interplay between eIF4E, DA neurotransmission, and behavioral flexibility, provide a mechanistic understanding of ASD symptoms and offer a foundation for targeted therapeutic interventions.

neuroscience↗

Deficiency of Heterogeneous Nuclear Ribonucleoprotein U leads to delayed neurogenesis

Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed in the human brain and shows the highest postnatal expression in the cerebellum. Recent studies have investigated the role of HNRNPU in cerebral cortical development, but the effects of HNRNPU deficiency on cerebellar development remain unknown. Here, we describe the molecular and cellular outcomes of HNRNPU locus deficiency during in vitro neural differentiation of patient-derived and isogenic neuroepithelial stem cells with a hindbrain profile. We demonstrate that HNRNPU deficiency leads to chromatin remodeling of A/B compartments, and transcriptional rewiring, partly by impacting exon inclusion during mRNA processing. Genomic regions affected by the chromatin restructuring and host genes of exon usage differences show a strong enrichment for genes implicated in epilepsies, intellectual disability, and autism. Lastly, we show that at the cellular level. HNRNPU downregulation leads to altered neurogenesis and an increased fraction of neural progenitors in the maturing neuronal population. We conclude that, HNRNPU locus is involved in delayed commitment of neural progenitors to neuronal maturation in cell types with hindbrain profile.

neuroscience↗