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Bridging the translational gap: what can synaptopathies tell us about autism?

FRONTIERS IN MOLECULAR NEUROSCIENCE (2023)

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Neurexin1α knockout rats display oscillatory abnormalities and sensory processing deficits back-translating key endophenotypes of psychiatric disorders

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Steven J. Clapcote

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Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals

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Novel Therapeutic Approach for Excitatory/Inhibitory Imbalance in Neurodevelopmental and Neurodegenerative Diseases

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Recent advances in three-dimensional microelectrode array technologies for in vitro and in vivo cardiac and neuronal interfaces

Jong Seob Choi et al.

Summary: 3D MEAs have emerged as promising tools for detecting electrical activities of tissues or organs in vitro and in vivo. Recent advancements include in vitro recording of cardiac and neural cellular electrophysiology, as well as in vivo applications for health diagnosis and therapy, with ongoing challenges and future directions discussed.

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Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders

Annick Vogels et al.

Summary: Individuals with Phelan-McDermid syndrome (PMS) often experience severe communication impairments, behavioral or psychiatric problems, and regression, which can adversely affect their quality of life and that of their families. Providing appropriate guidance and support to these individuals and their families requires a better understanding of these challenges.

CURRENT OPINION IN PSYCHIATRY (2021)

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Article Genetics & Heredity

Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model

Emmanuel Matas et al.

Summary: The Shank3 Delta C/Delta C mice exhibited significant impairments in social behavior, stereotyped behavior, and gait, along with decreased Purkinje cells and mGluR5 expression in the cerebellum. On the other hand, Shank3+/Delta C mice only showed impairments in social behavior and reduced mGluR5 expression to a lesser extent. The deficits were more pronounced in male mice compared to females.

MOLECULAR AUTISM (2021)

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Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids

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Summary: The inability to observe relevant biological processes in vivo has restricted human neurodevelopmental research, but advances in in vitro model systems offer a solution. This study optimizes a method for imaging intact 3D brain organoids using an Airy-beam light sheet microscope, allowing for high-resolution examination of internal structures. This approach facilitates the investigation of human neurodevelopment processes in vitro.

MOLECULAR AUTISM (2021)

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Article Clinical Neurology

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

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Summary: This study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS) and idiopathic autism spectrum disorder (ASD). Results showed differences in social attention and recognition memory between PMS and ASD, as well as varied responses to social stimuli among different subgroups of idiopathic ASD.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2021)

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Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Jan Philipp Delling et al.

Summary: This review summarizes the literature on SHANK3-deficient animal models, highlighting the phenotypic similarities to ASD and PMDS and the potential translational implications for human patients. Various genetic strategies have been used to generate animal models with SHANK3 deficiency, reflecting the heterogeneity of clinical severity seen in human patients. The exploration of new therapeutic approaches, such as CRISPR-mediated activation of promoters targeting genetic haploinsufficiency, holds promise for future treatments.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2021)

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Article Biochemistry & Molecular Biology

Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex

Simone Chiola et al.

Summary: The study utilized CRISPR/Cas9-engineered human pluripotent stem cells with SHANK3 deletion to investigate synaptic and morphological properties in the mouse prefrontal cortex. Findings showed that SHANK3-deficient human neurons have reduced synaptic transmission and impaired dendritic arbors and spines, providing a new platform for studying connectivity deficits in genetic neurodevelopmental disorders associated with autism.

MOLECULAR PSYCHIATRY (2021)

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Article Cell Biology

Neurexin1α differentially regulates synaptic efficacy within striatal circuits

M. Felicia Davatolhagh et al.

Summary: In the striatal circuitry, dysregulation of Nrxn1α specifically affects synaptic strength onto the indirect pathway SPNs, while thalamic excitatory inputs to DMS exhibit relatively normal excitatory synaptic strength despite changes in synaptic NMDAR content. This suggests that Nrxn1α modulates striatal function in an input- and target-specific manner.

CELL REPORTS (2021)

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Article Neurosciences

Increased ribosomal protein levels and protein synthesis in the striatal synaptosome of Shank3-overexpressing transgenic mice

Chunmei Jin et al.

Summary: The study suggests that Shank3 may remodel the postsynaptic proteome by regulating synaptic protein synthesis, and dysfunction in this process could be implicated in SHANK3-associated synaptopathies.

MOLECULAR BRAIN (2021)

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Article Psychiatry

Variable Emergence of Autism Spectrum Disorder Symptoms From Childhood to Early Adulthood

Lucy Riglin et al.

Summary: Autistic symptoms show different trajectories of development, with some starting in childhood and gradually declining, while others emerge in adolescence and adulthood. Male individuals are more likely to exhibit a trajectory of declining symptoms, with this gender difference not observed in the late-emerging symptom class.

AMERICAN JOURNAL OF PSYCHIATRY (2021)

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Review Biochemistry & Molecular Biology

Emerging evidence implicating a role for neurexins in neurodegenerative and neuropsychiatric disorders

Katelyn Cuttler et al.

Summary: Synaptopathies are brain disorders characterized by dysfunctional synapses, which are essential for transmitting information between neurons. Neurexins, a type of synaptic cell adhesion molecule, have gained interest due to their association with neuropsychiatric disorders and neurodegenerative disorders. Both changes in neurexin expression and mutations have been implicated in diseases such as autism spectrum disorder and Parkinson's disease.

OPEN BIOLOGY (2021)

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Review Behavioral Sciences

Touchscreen cognitive testing: Cross-species translation and co-clinical trials in neurodegenerative and neuropsychiatric disease

Daniel Palmer et al.

Summary: Computer-automated cognitive test batteries have the potential to improve translation between pre-clinical studies and clinical trials, facilitate data sharing and standardization, and address challenges in research on neurodegenerative and neuropsychiatric diseases.

NEUROBIOLOGY OF LEARNING AND MEMORY (2021)

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Article Multidisciplinary Sciences

Neuropixels 2.0: A miniaturized high-density probe for stable, long-term brain recordings

Nicholas A. Steinmetz et al.

Summary: The research introduces the Neuropixels 2.0 probe and newly designed analysis algorithms, enabling high-quality recordings for long time scales in small mammals. Automatic post hoc correction for brain movements allows recording from the same neurons for more than 2 months. These probes and algorithms enable stable recordings from thousands of sites during free behavior.

SCIENCE (2021)

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Article Genetics & Heredity

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Michael. G. Mariscal et al.

Summary: The study found that individuals with PMS show increased alpha-gamma phase bias, particularly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias, while typically developing individuals show negative overall phase bias. Among those with PMS, the strength of alpha-gamma phase-amplitude coupling is associated with specific behavioral traits.

MOLECULAR AUTISM (2021)

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Article Behavioral Sciences

Reduced brain volume and white matter alterations in Shank3-deficient rats

Carla E. M. Golden et al.

Summary: Mutations and deletions in the SHANK3 gene cause Phelan-McDermid syndrome, characterized by intellectual disability and autism spectrum disorder. Studies on both patients and rat models with Shank3 deficiency show reductions in brain volume and white matter alterations.

AUTISM RESEARCH (2021)

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Article Behavioral Sciences

Social Behavior in Prepubertal Neurexin 1α Deficient Rats: A Model of Neurodevelopmental Disorders

Katherine E. Kight et al.

Summary: Loss-of-function mutations in synaptic protein neurexin1 alpha are linked to neurodevelopmental disorders like ASD, schizophrenia, and ADHD, affecting social cognition. Using rats as models, the study found deficits in ultrasonic vocalizations and social play in male rats with Nrxn1 alpha deficiency, while nurturing behavior was enhanced in rats with biallelic mutation. Severe deficits in prosocial helping behavior and learning were seen in rats with biallelic mutation, supporting the rat model for Nrxn1 alpha-related disorders.

BEHAVIORAL NEUROSCIENCE (2021)

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Article Neurosciences

NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons

Sahar Avazzadeh et al.

Summary: NRXN1α(+/-) patient-derived cortical neurons exhibit alterations in sodium currents, action potential characteristics, and transcriptomic changes related to upregulated glutamatergic synapse and ion channels/transporter activity. These changes are likely to contribute to the enhanced excitability observed in NRXN1α(+/-) cortical neurons, indicating potential therapeutic targets for ASD.

BMC NEUROSCIENCE (2021)

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Article Multidisciplinary Sciences

GluD1 is a signal transduction device disguised as an ionotropic receptor

Jinye Dai et al.

Summary: This study reveals that the binding of presynaptic neurexin-cerebellin complexes to postsynaptic GluD1 controls glutamate receptor activity in hippocampal synapses, without affecting synapse numbers. Specifically, neurexin-1-cerebellin-2 and neurexin-3-cerebellin-2 complexes regulate NMDA and AMPA receptors by activating distinct postsynaptic GluD1 effector signals.

NATURE (2021)

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Article Multidisciplinary Sciences

Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons

ChangHui Pak et al.

Summary: Heterozygous NRXN1 deletions are associated with schizophrenia and other neurodevelopmental disorders, causing impaired neurotransmitter release in human neurons. However, mouse neurons with NRXN1 deletions did not show the same impairment, suggesting a human-specific phenotype. The deletions also led to increased levels of CASK and characteristic gene-expression changes, highlighting the potential for future drug discovery targeting NRXN1 deletions.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Genetics & Heredity

Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD

Teresa Tavassoli et al.

Summary: Phelan-McDermid syndrome (PMS) is a common genetic form of autism spectrum disorder (ASD), with children showing significantly greater hyporeactivity symptoms and fewer hyperreactivity and seeking symptoms compared to children with idiopathic ASD (iASD) and typically developing (TD) children. The study suggests that haploinsufficiency of SHANK3 is the main driver of the sensory phenotype seen in PMS, and the sensory abnormalities identified in PMS may inform future clinical trials in the syndrome.

GENES (2021)

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Article Neurosciences

Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome

Constance Smith-Hicks et al.

Summary: Neurodevelopmental disorders are often linked with sleep disturbances, particularly in genetic synaptopathies like PMD and SYNGAP1-ID. Sleep abnormalities were found to be significant in both disorders, with SYNGAP1-ID exhibiting more severe disturbances. Improved sleep is a potential focus for future clinical trials in these disorders.

BRAIN SCIENCES (2021)

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Differential expression and dendritic transcript localization of Shank family members:: identification of a dendritic targeting element in the 3′ untranslated region of Shank1 mRNA

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