Down Syndrome Insights

Brain organoids – 3D miniature brain-like structures formed from cultured brain cells – are providing novel insights into the cellular and molecular mechanisms of a range of neuropathologies. One of the latest conditions under study is Down syndrome (caused by having an extra copy of chromosome 21), which although not solely neurological has many neurological complications such as intellectual disability, cognitive delay, and vision problems. Down syndrome brain organoids (like the one pictured) were created via the reprogramming of patient skin cells and have revealed, among other things, an unusually high abundance of inhibitory neurons compared with organoids derived from healthy individuals. A similar neuronal bias was seen in mice whose brains contained patient cells. Moreover, studies showed that a gene on chromosome 21 called Olig2 was responsible for this bias and that inhibition of Olig2 could prevent the cellular overproduction and improve behavioural deficits in the mice.

Written by Ruth Williams

Ruth Williams

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Ruth is a freelance science journalist based in the US. She's a regular correspondent for The Scientist, and her work has appeared in The Lancet, Nature, Scientific American Mind, BBC Focus and elsewhere. Twitter @rooph

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• Image by Ranjie Xu, Rutgers University-New Brunswick
• Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ, USA
• Image copyright held by the original authors
• Research published in Cell Stem Cell, May 2019