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In this week’s WCMR Science Seminar Series, we heard from PhD student Laura Smith about her research project that involves investigating neuronal vulnerability underlying seizure activity in Alpers’ syndrome. Read on to find out more.

Alpers’ syndrome is a rare, paediatric mitochondrial disease which affects approximately 1 in 50,000 children in infancy or adolescence. Affected individuals develop severe, prolonged seizures which are very difficult to control with medication.

Mitochondria are found within cells and have a crucial role in converting energy locked in fuels, such as carbohydrates and fats, into a form of energy that cells can use to function properly. A major step in this process is the production and maintenance of mitochondrial DNA (mtDNA), which contains important information about key components of the energy conversion machinery. Inherited mutations in the POLG gene impair the manufacture and repair of mtDNA leading to a depletion of mtDNA in cells and organs, and a condition known as Alpers’ syndrome. In the brain this loss of mtDNA limits energy supply for neurons disrupting their function, disturbing the normal patterns of neuronal electrical activity and leading to frequent seizures.

My research focusses on understanding the changes to specific cells in the brain which lead to seizures in patients with Alpers’ syndrome. Recently, I have investigated a specific population of brain cells known as inhibitory interneurons. These interneurons normally function to control and block excessive electrical activity to prevent seizures from developing. However, my recent work on donated brains from patients with Alpers’ syndrome has revealed that there is severe dysfunction and loss of a specific type of interneuron. This is an important finding as it may help shape future research to protect these important regulatory interneurons from mitochondrial dysfunction, or to improve their function.

My future work is going to focus on investigating another type of brain cell known as astrocytes, which are the main protective cells of the brain and provide support to neurons. We hope to understand the functioning of these cells at sites in the brain where seizures develop in patients with Alpers’ syndrome.

Laura’s PhD project is funded by The Ryan Stanford Appeal. To find out more, click here.

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