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syndrome

Cerebral overload

Mini-brain grown from a skin cell: tool for studying neuronal activity

MUOTRILAB/UCSD Mini-brain grown from a skin cell: tool for studying neuronal activityMUOTRILAB/UCSD

A rare genetic disease known as MECP2 duplication syndrome, found almost exclusively in baby boys, causes their neurons – the cells that store and transmit information in the brain – to be more connected and exchange more information among themselves. Not only do these cells communicate more, they exchange information in an abnormally synchronized manner, discovered the team led by Brazilian biologist Alysson Muotri at the University of California, San Diego. Caused by a duplication of the MECP2 gene, the syndrome causes severe neurodevelopmental retardation. Boys with an extra copy of the gene have speech impediments and impaired motor control, in addition to traces of autism. Muotri and his collaborators used an innovative strategy to investigate how the brain cells of these children work. They removed skin cells from three boys with the syndrome and, in the laboratory, made them regress to a more versatile stage at which they are able to generate cells from different tissues. Then, they stimulated the cells to transform into neurons. Cultivated in a three-dimensional matrix, the cells multiplied and formed multi-layered structures resembling microscopic brains. The neurons in these mini-brains had more dendrites and communicated more than those obtained from skin cells of people without the syndrome. One of a total of 43 tested compounds was able to reverse the structural and functional alterations found in afflicted cells (Molecular Psychiatry, September 8, 2015).

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