Nicholas Smith

• BSc (Hons) Biomedical Sciences
• Understanding the molecular mechanisms of neurodegeneration in mitochondrial disease

Mitochondria are essential for the production of cellular energy. Genetic defects within mitochondrial DNA typically affect oxidative phosphorylation and impair energy generation. This results in mitochondrial disease, where symptoms include neurological impairments such as epilepsy. My research consisted of the microscopic analysis of proteins expressed by mitochondria within astrocytes in human brain tissue. Samples were taken from disease-control individuals, non-disease controls and patients with genetically defined mitochondrial disease. I then determined whether respiratory chain deficient mitochondria are present within astrocytes and correlated astrocyte pathology with clinical signs of epilepsy in patient samples.

Funding source: The Pathological Society of Great Britain and Ireland