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HUMAN GENETICS

Organoids reveal the neurodevelopmental consequences of mutations

Nature Reviews Genetics volume 23, page 195 (2022)Cite this article

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Identifying the underlying cellular and molecular mechanisms by which mutations cause human neurological disorders requires model systems that recapitulate key aspects of human brain development and function. Two new studies of mutations linked to distinct neurological conditions — autism spectrum disorders (ASD) and tuberous sclerosis complex (TSC) — use human brain organoids to identify mutation-driven alterations to cell lineage trajectories during early brain development.

The authors used the iPSC lines to generate cortical brain organoid cultures and then performed single-cell RNA sequencing (scRNA-seq) after 1 month, 3 months and 6 months (more than 745,000 cells total) to examine the distribution of cell types during differentiation.

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References

Original articles

  • Paulsen, B. et al. Autism genes converge on asynchronous development of shared neuron classes. Nature 602, 268–273 (2022)

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  • Eichmüller, O. L. et al. Amplification of human interneuron progenitors promotes brain tumors and neurological defects. Science 375, eabf5546 (2022)

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Related article

  • Rossi, G., Manfrin, A. & Lutolf, M. P. Progress and potential in organoid research. Nat. Rev. Genet. 19, 671–687 (2018)

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Darren J. Burgess

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  1. Darren J. Burgess
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Correspondence to Darren J. Burgess.

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Burgess, D.J. Organoids reveal the neurodevelopmental consequences of mutations. Nat Rev Genet 23, 195 (2022). https://doi.org/10.1038/s41576-022-00467-8

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  • DOI: https://doi.org/10.1038/s41576-022-00467-8

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