Scientists establish the first mitochondrial epilepsy model

According to a recent study, researchers at Trinity College Dublin have established a model of mitochondrial epilepsy for the first time, which provides a better treatment for patients with this disability. Their paper was published in the peer-reviewed international neurology journal Brain.

Mitochondrial disease is one of the most common hereditary diseases. One in four patients with mitochondrial disease suffer from epilepsy, which is usually very severe and resistant to conventional anti-epileptic drugs. Despite this, there are currently no animal models that provide an understanding of the underlying mechanisms of the disease.

To date, astrocytes, the characteristic astrocytes found in the brain and spinal cord, are considered "support cells" and play a largely passive role in the brain. However, the study suggests that they actually play an important role in driving mitochondrial seizures.

The researchers reconstructed a new brain slice model by applying astrocyte-specific aconitase inhibitors, fluorocitrate, with mitochondrial respiratory inhibitors, rotenone and potassium cyanide.

The team then used the model to assess the role of astrocytes in seizures and demonstrated the involvement of the GABA-glutamate-glutamine cycle, which regulates how chemical emitters are released from neurons and then Astrocyte absorption.

It is worth noting that glutamine appears to be an important intermediate molecule between the neurons and the astrocyte compartments in the regulation of GABA.

Finally, the team found that glutamine synthetase deficiency is an important component of the pathogenesis of seizures in brain slice models and human neuropathology studies.

Interpreting the importance of research, Mark Cunningham, a professor of neuroanaphysiology at Ellen Mayston Bates, said: "We believe this is an important and novel study because it first produced a model of mitochondrial epilepsy that captured the observed features. This model provides insights into the role of astrocytes in this pathological activity."

Professor Cunningham believes: "We believe this work is very important to provide new ways to provide better treatment for this disease . Future work will further develop this model so that it can be used for being diagnosed with mitochondrial disease and A new type of anti-epileptic drug tailored to patients with symptoms of epilepsy.

Source: Researchers describe the first model of mitochondrial epilepsy

Original source: Felix Chan et al, The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction,Brain(2018). DOI: 10.1093/brain/awy320