Current Status of Research


Mitochondrial dysfunction primarily affects organs with high energy demands, such as the brain, muscle and heart, leading to variable clinical presentations ranging from muscle weakness to neuropathy. To date, researchers’ understanding of the role of mitochondria in human health has stemmed from primary mitochondrial diseases. These are inherited, incurable, progressive, and cause debilitating developmental and cognitive disabilities and symptoms in ~1 in 4,000 Canadians. Estimates suggest that 1 in 200 individuals harbourpathogenic mitochondrial DNA (mtDNA) mutations. Researchers now recognize that mitochondrial dysfunction plays a significant role in common, chronic diseases, including neurodevelopmental, neuropsychiatric and neurodegenerative disorders, cardiovascular disease, cancer, and many metabolic disorders.

Mitochondrial genetics and function can also help explain why some patients experience rapid progression in their illness, and why some are responsive to treatment, while others are not. While evidence suggests that interventions, such as exercise play a powerful role in fostering and maintaining mitochondrial health, future therapeutics derived from mitochondrial omics research have the potential to transform how we treat the most common and devastating diseases.

Advances in rapid and affordable analysis of omics data—genomics, proteomics and metabolomics—are revolutionising the precision with which we diagnose and treat disease and individualise health care. This new care environment will enable the next frontier: the addition of mitochondrial omics to enable analysis of the full spectrum of human health. Canadian researchers and clinicians are at the forefront of mitochondrial medicine.