This image shows a brain"assembloid" consisting of two connected brain"organoids." Scientists studying these structures have restored impaired brain cells in Timothy syndrome patients.This image shows a brain"assembloid" consisting of two connected brain"organoids." Scientists studying these structures have restored impaired brain cells in Timothy syndrome patients.
The mutation occurs on a gene called CACNA1C, which is involved in controlling the flow of calcium ions in and out of cells. This"calcium signaling," in turn, controls many of the processes a cell needs to function. To see if the antisense drug worked, Pasca's team did an experiment with newborn rats. First, they transplanted brain organoids containing the Timothy syndrome mutation into the cerebral cortex of rats.
It is also studying how calcium signaling — the cellular process affected in Timothy syndrome — may play a role in much more common conditions, including schizophrenia, bipolar disorder, and autism spectrum disorder.All of those conditions are caused by mutations to a single gene. Antisense treatments for conditions that involve multiple genes – like most forms of autism, schizophrenia, and epilepsy — are likely to be much harder to develop, Zoghbi says.
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