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Model Mini Brains

Insight into the effects on neural cells of the TCF4 gene mutation that causes a severe autism spectrum disorder

23 May 2022

Model Mini Brains

You don’t need to be a neuroscientist to notice the size and structural differences between these two brain organoids – cultured clumps of brain cells that replicate certain features and functions of actual brain tissue. These 'mini-brains' were generated from human stem cells and differ because of the donors. Cells from a person with Pitt-Hopkins syndrome – a severe form of autism spectrum disorder characterised by intellectual disability, developmental delay and seizures – were used to generate the organoid on the right, while cells from someone without the condition generated the one on the left. Mutations to a gene called TCF4 cause Pitt-Hopkins syndrome and studying the patient-derived organoids revealed how the mutation impairs proper growth and development of neurons. Encouragingly, mutation-fixing gene therapy performed on the mini-brains improved the cells’ development and function, providing hope that similar therapies might one day alleviate symptoms in children with this rare but debilitating condition.

Written by Ruth Williams

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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