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Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

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IQSEC2-Associated Intellectual Disability and Autism.

Nina S Levy¹, George K E Umanah², Eli J Rogers³

¹Technion Israel Institute of Technology, 1 Efron St., Haifa, 3525422, Israel. ninal@technion.ac.il.

International Journal of Molecular Sciences

|June 26, 2019

Summary

Mutations in IQSEC2 gene are linked to intellectual disability and autism. This study reviews how IQSEC2 signaling impacts neuronal function and suggests therapeutic targets for related conditions.

Keywords:

AMPA receptors NMDA receptors autism guanine nucleotide exchange factor intellectual disability synaptic plasticity

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Mutations in the IQSEC2 gene are a known cause of intellectual disability (ID), often presenting with seizures and autism spectrum disorder.
IQSEC2 is crucial for neuronal development and synaptic plasticity, particularly within excitatory synapses.
Dysregulation of synaptic proteins, including NMDA and AMPA receptors, is implicated in the pathophysiology of autism.

Purpose of the Study:

To review the signaling pathways of neuronal IQSEC2, focusing on its role in autism.
To elucidate the molecular mechanisms by which IQSEC2 influences synaptic function.
To identify potential therapeutic targets for IQSEC2-associated ID and autism.

Main Methods:

Review of existing literature on IQSEC2 signaling and its interaction with synaptic proteins.
Analysis of the molecular cascade involving NMDA receptor activation, calcium/calmodulin binding, and ARF6 activation.
Examination of data from an IQSEC2 transgenic mouse model exhibiting autistic features.

Main Results:

IQSEC2 interacts with NMDA receptors via PSD-95, and its activation leads to ARF6 activation.
Activated ARF6, through a JNK-mediated pathway, downregulates surface AMPA receptors.
An IQSEC2 mutation (A350V) in mice resulted in autistic behaviors and decreased surface GluA2 levels.

Conclusions:

IQSEC2 signaling critically regulates the surface expression of AMPA receptors, a process disrupted in autism.
Sec7 activity and AMPA receptor recycling represent promising therapeutic targets for IQSEC2-related neurological disorders.