Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria – mitochondria that don’t work properly. It can affect energy intensive systems within the body including: the liver, kidneys, pancreas, brain and digestive tract. The eyes, inner ear, muscles and blood may also be affected.

There are currently over 300 illnesses associated with mitochondrial dysfunction, and the list is growing.

Due to the complexity in diagnosis, it is estimated only 10% of people affected by mitochondrial disease get diagnosed. On average patients see eight physicians before receiving a clinical diagnosis of mitochondrial disease.

Dr. Samantha Marin and Dr. Mark Tarnopolsky explain why mitochondrial disease is so difficult to diagnose. Dr. Marin is Assistant Professor and Teaching Coordinator Section of Paediatric Neurology Department of Pediatrics and Child Health, University of Manitoba. Dr. Tarnopolsky is a Professor and Division Head of Neuromuscular and Neurometabolic Disorders, Department of Pediatrics at McMaster University.

We have more questions than answers, but you have to start somewhere. We founded MitoCanada to start revealing the mystery behind this disease. One day we will get there.

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