"Parsley syndrome" in rats
Rat model of Angelman's disease
Anna Khoruzhaya, "Neuron News"
Researchers from the University of California at Davis managed to create a very plausible and maximally similar in human manifestations model of Angelman's disease – a genetic pathology related to autism spectrum disorders.
Angelman syndrome develops due to a mutation occurring in the UBE3A gene. It encodes ubiquitin ligase, an enzyme component of a complex protein degradation system in a cell. The mutation leads to a lack of enzyme work, proteins that should have been destroyed accumulate, and this all manifests itself in the clinical picture in the form of a significant lag in development, motor disorders, frequent epileptic seizures, causeless bouts of laughter and autism symptoms.
Currently, genetic therapy is being tried to treat this pathology, but adequate models are needed to develop new methods. And scientists created them by depriving rats of a maternal copy of the UBE3A gene. We checked the adequacy of the model in a non–standard way - animals were tickled and recorded the number of squeaks with which they responded to this tickling. Genetically modified animals made sounds three times more often than control animals during tickling sessions, as well as during short periods without tickling. This, according to scientists, is in good agreement with random causeless laughter in people with the disease.
In addition, young males with the mutation did not attack each other, only sniffing, whereas usually rodents at this age react more aggressively, attacking each other up to 10 times within 10 minutes. A test to find the source of the squeak in the maze showed that rats with the model of Angelman's disease do not respond to it, continuing to study the space around them. Healthy animals always begin to follow the squeak, trying to find a "friend".
Unlike control rats (left), rats that lack the UBE3A gene (right) do not move in the direction of the squeak of another rat.
Scientists believe that such a model turned out to be more similar to the "original" than the mouse model, and is much better suited for testing new drugs that reduce the symptoms of the disease, or for genetic treatment.
Portal "Eternal youth" http://vechnayamolodost.ru