Mitochondria
and Metabolism
We are investigating the links between mitochondria, metabolic differences, and NDDs.
Mitochondria are vital cellular organelles that play viral roles in aerobic respiration, energy metabolism, cellular apoptosis, and in the modulation of neuronal activity. Mitochondrial dysfunction includes primary mitochondrial disease due to pathogenic mutations of oxidative phosphorylation genes, and secondary mitochondrial dysfunction, which encompasses all other causes of mitochondrial dysfunction. Autism is a heterogenous neurodevelopmental condition characterized by social communication difficulties and repetitive restricted patterns of behaviour that impacts 1 in 54 children in North America. Mitochondrial dysfunction has been postulated to contribute to biologic and central nervous system alterations that underlie autism. Clinical ‘red flags’ include a history of significant motor delay and developmental regression. Current genetic screening for mitochondrial disorders predominately identifies primary dysfunction, which impacts approximately 5% of individuals with autism, whereas secondary mitochondrial dysfunction, which impacts up to 80% of individuals with autism, is not routinely tested.
This project aims to address current limitations for screening secondary mitochondrial dysfunction by implementing a non-invasive buccal swab technique. This technique has been developed to measure markers of secondary mitochondrial dysfunction specifically oxidative phosphorylation and TCA cycle enzyme activity. Secondary mitochondrial dysfunction could be a potential therapeutic target, for example treating mitochondrial dysfunction in children with autism to prevent loss of motor skills or developmental regression. The primary purpose of this project is to test the hypothesis that there is a subset of children with autism who have secondary mitochondrial dysfunction that can be readily identified using a novel buccal swab technique.
Collaborators:
Dr. Jane Shearer (Professor, Kinesiology, University of Calgary).