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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

Autism genes converge on asynchronous development of shared neuron classes.

Bruna Paulsen^1,2, Silvia Velasco^3,4,5, Amanda J Kedaigle^1,2,6

¹Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.

|February 3, 2022

Summary

Autism spectrum disorder (ASD) risk genes cause asynchronous neuronal development in human brain organoids. These cell-specific defects, influenced by individual genetics, lead to abnormal circuit activity, revealing shared neurobiological pathways in ASD.

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Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Autism spectrum disorder (ASD) risk involves hundreds of genes with diverse functions.
The specific brain alterations and variable phenotypes caused by these genetic mutations are not fully understood.

Purpose of the Study:

To identify cell-type-specific developmental abnormalities in human cerebral cortex organoids resulting from haploinsufficiency in three ASD risk genes: SUV420H1, ARID1B, and CHD8.
To investigate phenotypic convergence and the influence of individual genomic context on ASD pathology.

Main Methods:

Utilized human cerebral cortex organoid models derived from multiple cell lines and donors.
Performed single-cell RNA-sequencing (scRNA-seq) on over 745,000 cells.
Conducted proteomic analysis of individual organoids and calcium imaging to assess circuit activity.

Main Results:

Haploinsufficiency in SUV420H1, ARID1B, and CHD8 led to asynchronous development of GABAergic and deep-layer excitatory projection neurons.
Distinct molecular pathways were implicated for each gene, yet phenotypic convergence was observed.
Developmental defects were consistent across cell lines but modulated by individual genomic context.
Early developmental changes correlated with abnormal circuit activity in organoid models.

Conclusions:

ASD risk genes can cause cell-type-specific neurodevelopmental abnormalities.
These abnormalities show convergence in their contribution to ASD pathology.
Individual genomic context significantly modulates the expressivity of ASD-related developmental defects.