Mice Study Sheds Light on Angelman Syndrome (Source: Spectrum News)

(photo: www.angelmanbehaviors.org)

(photo: www.angelmanbehaviors.org)

There are a variety of disorders and conditions on the autism spectrum, as well as several that have overlapping symptoms with ASD. A new study focuses on an autism-related genetic disorder called Angelman Syndrome.

 
The study focused on the seizure aspect of the disorder, as ninety percent of children with Angelman Syndrome experience seizures.
 
A mutated or complete lack of a specific group of neurons, called UBE3A, is linked to the disorder. The researchers aimed to pinpoint how the neurons, or lack of, can influence the brain network, which could be resulting in the seizures.
 
“If we can home in on how UBE3A loss is altering circuitry, I think that will give us more clues as to what therapeutics will help,” said lead researcher and professor of neuroscience at the University of North Carolina at Chapel Hill, Benjamin Philpot.
 
Using mice as test subjects, Philpot and his fellow researchers found that the rodents that lacked the gene also had a dwindling level of inhibitory activity. The mice were put into sets based off how the scientists deleted the gene from their neurons, those that increase brain activity, and those that decrease it. Seizures from the inhibitory neurons, the ones that decreased activity, were triggered in the mice by specific convulsant drug or loud noises.
 
 A sleeping drug was shown to improve the motor coordination problems in the mouse with Angelman Syndrome.
 
The mice with the mutated inhibitory neurons were also shown to have issues in brain activity, evident from electroencephalography. This resulted in seizures that were more severe than those that completely lacked the neurons. Fifteen percent of the mice with these mutated neurons died before they were ever three months old.
For more information, check out the source for this blog post, Spectrum News.
Written byNicole Caropolo
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