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Nacc1 Mutation In Mice Models Rare Neurodevelopmental Disorder With Underlying Synaptic Dysfunction.

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Nacc1 Mutation In Mice Models Rare Neurodevelopmental Disorder With Underlying Synaptic Dysfunction.

Related Experiment Video

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction.

Mark A Deehan¹, Josine M Kothuis¹, Ellen Sapp¹

¹Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience

|February 22, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

A new mouse model with a NACC1 gene mutation shows neurodevelopmental delay, seizures, and altered gene expression, simulating a rare form of autism for research.

Keywords:

EEG NACC1 autism seizure synapse transcriptomics

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Published on: December 1, 2017

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

A specific missense mutation in the Nucleus accumbens-associated 1 (NACC1) gene causes severe neurodevelopmental delay.
Understanding the molecular and physiological consequences of this mutation is crucial for developing therapeutic strategies.

Purpose of the Study:

To create and characterize the first mouse model of NACC1-associated neurodevelopmental disorder.
To investigate the phenotypic, cellular, and molecular changes in mice carrying the homologous NACC1 mutation.

Main Methods:

Engineered a mouse model with the homologous NACC1 mutation (c.892C>T).
Conducted electroencephalography (EEG), behavioral analysis, Western blotting, and RNA sequencing (RNA-seq) from embryonic to adult stages.
Examined NACC1 protein isoforms and immunoreactivity in cortical neurons and glial cells.

Main Results:

Mutant mice exhibited delayed weight gain, epileptiform discharges, seizures, and hindlimb clasping.
RNA-seq revealed over 1,000 differentially expressed genes, with downregulated glial transcripts and upregulated synaptic genes.
Increased nuclear NACC1 immunoreactivity was observed in specific neuronal populations, while astrocytic markers were diminished.

Conclusions:

The NACC1 mouse model accurately recapitulates key features of the human neurodevelopmental disorder.
This model provides a valuable platform for studying the pathophysiology of NACC1-related disorders, including rare forms of autism.
The findings highlight potential therapeutic targets related to synaptic function and glial support.