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Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during
A Kathuria1, P Nowosiad1, R Jagasia2
1Cells & Behavior Unit, Department of Basic and Clinical Neuroscience, Institute of Psychiatry Psychology & Neuroscience, King's College London, London, UK.
Molecular Psychiatry
|September 27, 2017
Summary
Mutations in the SHANK3 gene are linked to autism spectrum disorder (ASD). This study shows SHANK3 protein is crucial for proper development and synapse formation in specific neuron types, impacting early brain development in ASD.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- SHANK3 protein is vital for synaptic structure.
- SHANK3 gene mutations are associated with autism spectrum disorder (ASD).
Purpose of the Study:
- Investigate the role of SHANK3 in neuronal development.
- Determine if SHANK3 defects contribute to ASD phenotypes in specific neuron types.
Main Methods:
- Generated induced pluripotent stem cells (iPSCs) and embryonic stem (ES) cells from individuals with and without ASD.
- Utilized Zinc finger nucleases to create SHANK3 knockout cell lines.
- Differentiated cells into cortical and olfactory placodal neurons for analysis.
Main Results:
- Patient-derived placodal neurons exhibited reduced synapse formation.
- SHANK3-deficient neurons displayed altered cell body size, neurite branching, and motility.
- These developmental defects were specific to placodal neurons, not cortical neurons.
Conclusions:
- SHANK3 plays a critical role in the morphogenesis of placodal neurons.
- Early developmental defects in placodal neurons due to SHANK3 mutations may contribute to ASD.
- This highlights a neuron-type-specific function of SHANK3 in neurodevelopmental disorders.
