Group/Researcher: Prof D. Turnbull, University of Newcastle Upon Tyne

Value of Grant: Year 2 - £50,912

The overall aim of this study is to determine if an exercise regime could be of benefit to people with mitochondrial myopathy.

Mitochondria are the ‘power-houses’ of the cell, generating energy from the fats and carbohydrates in our food. Each cell harbours more than a thousand mitochondria and each one has its own small genome, or DNA, carrying the information for 13 proteins. There is a group of patients with muscle disease in which the abnormality is in the mitochondrial DNA. These patients have a condition called mitochondrial myopathy. Since our muscles are heavily dependent on energy for movement and particularly any exercise, it is not surprising that these patients develop muscle pain, fatigue and weakness. The weakness can be quite severe and is usually progressive. Whilst we are starting to learn a great deal about the genetic and biochemical abnormality in patients with mitochondrial myopathies, at present in the majority of patients there is no effective treatment.

Previous work has shown that exercise therapy may be beneficial in patients with mitochondrial disease. This study will look at the long-term effect of this exercise to determine if the changes seen are long-lasting and result in a permanent improvement in amount of good versus bad mitochondrial DNA. Prof Turnbull and his colleagues also wish to determine if combining both strength (using weights) training and resistance (exercise bike) training together results in a better improvement compared to resistance training alone. Most importantly this study should provide clear information about the type and degree of exercise that patients should take.