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Aurora magazine

Created in the laboratory the first model of mitochondrial epilepsy

Researchers at Trinity College Dublin have for the first time created a model of mitochondrial epilepsy. Thanks to the discovery it will be easier to create new treatments for the disease, one of the most widespread forms of genetic epilepsy.

It is estimated that only in Ireland about 1 new born every 9,000 suffer from this form of epilepsy. It is about a quarter of those suffering from mitochondrial diseases in general. Yet, however widespread, there are no definitive therapies against mitochondrial epilepsy. Conventional drugs also tend to be less effective, which complicates the lives of those who suffer from them. Furthermore, there are no animal models that allow us to study their mechanisms. The lack of models for studying mitochondrial epilepsy is one of the major problems.

That's why the Trinity researchers are committed to developing one in vitro. To this end, they applied special mitochondrial inhibitors to a mini brain. The model obtained presents all the characteristics of the disease and has revealed several previously unclear points. Until recently it was believed that astrocytes played only a supporting role in the brain.

Researchers have shown that they play a central role in mitochondrial epilepsy. The GABA receptors regulate the chemical transmitters released by the neurons, then transported by the astrocytes. When a deficiency of one of the components of this cycle occurs, glutamine, the transmission of the transmitters fails. This perhaps causes epileptic seizures.

It is just a first step and there are still many things to explain. Nevertheless, the creation of a model to be used in research is already fundamental in itself.