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Epilepsy, mitochondrial disease and supporting the next generation of researchers

Epilepsy, mitochondrial disease and supporting the next generation of researchers

Dr Lyndsey Butterworth and PhD student Elizaveta Olkhova

Wellcome Centre for Mitochondrial Research (WCMR) 

Date Published: March 22, 2022

Author: James Matejka

The Epilepsy Research UK & Newcastle University Doctoral Training Centre aims to create a school of future leaders in epilepsy research across six innovative projects. One of these PhD projects will focus on how mitochondrial disease contributes to the development of epilepsy.  

The Wellcome Centre for Mitochondrial Research (WCMR) at Newcastle University has long-standing clinical and scientific expertise in the condition, and roughly half of children and a quarter of adults with mitochondrial disease experience epilepsy. In this Research Blog, WCMR’s Dr Lyndsey Butterworth and PhD student Elizaveta Olkhova discuss the connection between epilepsy and mitochondrial disease and the vital research being carried out which could benefit everyone affected by the conditions.

How is the WCMR working with Epilepsy Research UK? 

As part of the Doctoral Training Centre recently established at Newcastle University, we are very excited to have a PhD studentship within the WCMR funded by Epilepsy Research UK. Co-supervised by Dr Nichola Lax, Dr James Stewart and Professor Gráinne Gorman, the PhD project aims to improve our understanding of the mechanisms underpinning epilepsy due to mitochondrial failure and identify new treatment options using a model of mitochondrial epilepsy developed within the WCMR. The project will also investigate mitochondrial failure in the world’s largest international collection of brain tissues altruistically donated by patients with mitochondrial disease.  

What is mitochondrial disease? 

Mitochondrial disease is a genetic disorder that can affect anyone at any age. It is caused by faulty mitochondria within the cells of the body, which make them unable to produce enough energy to work properly. This can lead to a range of severely debilitating symptoms that can affect any part of the body, but particularly organs with high-energy demands such as the brain. As brain cells need a lot of energy to communicate with each other and support normal brain activity, the lack of energy that results when the mitochondria fail can trigger epilepsy. This is why approximately 50% of children and 25% of adults with mitochondrial disease experience epilepsy.  

What research is being done in the WCMR? 

Our team from the WCMR are interested in understanding which types of cells within the brain are vulnerable when the mitochondria fail. By studying brain tissue generously donated to research by patients with mitochondrial disease, we were able to show that certain brain cells were absent, and those that survived contained high levels of faulty mitochondria. We were also able to show that cells important for supporting normal brain activity contained faulty mitochondria. Importantly, the changes we described in mitochondrial epilepsy share many features with other more common types of epilepsy. As such, finding the right treatment for mitochondrial epilepsy could benefit the whole epilepsy research field. 

Why is this research important for those affected by epilepsy? 

Despite significant advances in mitochondrial research over recent years, there is currently no cure for mitochondrial disease. Managing the complex symptoms associated with the disease is often the only option for those living with the condition. This can be particularly challenging for mitochondrial epilepsy as nearly one-third of patients become resistant to the treatments that are currently available. To address this, the mitochondrial research field urgently needs reliable models of mitochondrial epilepsy that can be used to increase our understanding of the condition and help identify potential new treatments. 

We hope the PhD project at the Epilepsy Research UK Doctoral Training Centre will help us understand why mitochondrial epilepsy is resistant to some medications. It also has the potential to unlock new treatment options that could help us transform the lives of the entire epilepsy community. One thing is for sure – without research funding, there is no hope for a cure. Let’s find a cure. 

You can read more and find application details for the ERUK-funded PhD with Newcastle University and the WCMR here.