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Related Concept Videos

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Chemical Synapses

Chemical Synapses

Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...

Chemical Synapses

Chemical Synapses

Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...

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Related Experiment Video

Updated: Mar 30, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Synaptic protein mutations in autism.

Ann Katrin Sauer¹, John A Walsh², Darragh Curran³

¹Department of Biological Sciences, University of Limerick, V94PH61 Limerick, Ireland; Bernal Institute, University of Limerick, V94T9PX Limerick, Ireland; Health Research Institute (HRI), University of Limerick, V94T9PX Limerick, Ireland.

Neurobiology of Disease

|March 28, 2026

Summary

Autism Spectrum Disorder (ASD) may stem from disruptions in synaptic proteins. Genetic and environmental factors converge on these proteins, highlighting their critical role in ASD development.

Keywords:

ASD Etiology PSD Pathology SHANK3 Synapse

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Strategies for Assessing Autistic-Like Behaviors in Mice

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Strategies for Assessing Autistic-Like Behaviors in Mice

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Autism Spectrum Disorder (ASD) etiology involves genetic and non-genetic factors impacting synaptic formation and function.
Synaptopathy, or synaptic dysfunction, is increasingly recognized as a central mechanism in ASD.

Purpose of the Study:

To review key findings linking synaptic proteins to ASD from human genetic and animal studies.
To discuss synaptic biological processes affected by these proteins and their convergence of risk factors.
To propose a unified theory where dysregulation of synaptic proteins explains a significant portion of ASD cases.

Main Methods:

Review of human genetic studies.
Analysis of animal models of ASD.
Synthesis of in vitro and in vivo research on synaptic proteins in ASD.

Main Results:

Numerous synaptic proteins are associated with ASD, implicated in synapse formation and function.
Synaptic protein dysfunction is supported as a crucial factor in ASD development.
Synaptic processes serve as convergence points for diverse genetic and environmental risk factors in ASD.

Conclusions:

Dysregulation of essential synaptic proteins is a unifying theory for a significant subset of ASD cases.
Understanding synaptic protein pathways offers insights into ASD etiology and potential therapeutic targets.
Synaptopathy represents a critical nexus for understanding the complex interplay of factors contributing to ASD.