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Key mechanism of epilepsy in Angelman syndrome discovered by researchers

In the course of research defined as “innovative,” a team of researchers from the Duke-NUS Medical School and the National Neuroscience Institute (NNI), Singapore, discovered a mechanism considered to be basic with regard to epilepsy in Angelman syndrome. This discovery, according to the researchers themselves, could lead to new therapies in the future.

Angelman’s syndrome (AS) is a rare genetic disease due to a defect in the process of chromosome duplication, often accompanied by delays in psychological and motor development, cognitive disabilities and other symptoms including epilepsy. In the course of the study, researchers at the Singapore Institutes used a new experimental methodology with human neural cells and brain organelles to understand the mechanism of epileptic seizures in this syndrome.

The researchers discovered the role of the ion channel in the hyperactivity of the brain network that triggers convulsions. The latter would be linked to gene deficiency of the ubiquitin ligase protein E3A (UBE3A) within neurons. As this is a syndrome that cannot be treated at present, this discovery could, therefore, be very important.

“Our study used 2D human neuronal cultures that allowed the accelerated discovery of functional differences at the single-cell level in the brain of normal individuals compared to those with AS,” explains Hyunsoo Shawn Je, the senior author of the study. “The use of mini 3D human brains allowed us to monitor spontaneous network activities, linking the results of abnormal firing from individual neurons and convulsive-like activities, just like those observed in the brains of AS patients.”