Dietary supplements as a potential new treatment for mitochondrial myopathies 

Mitochondria are small structures in cells which produce most of a cell’s energy. It’s important for cells to produce energy, as that energy ends up being used by our bodies to perform essential functions, such as breathing, eating, moving. Mitochondrial diseases are a group of conditions in which mitochondrial energy production fails or is reduced. These conditions can affect many different parts of the body, particularly those which need a lot of energy to work properly, such as the brain, muscle, liver and heart. 

Proteins in our bodies are made up of chains of essential building blocks called amino acids. In people with a specific type of mitochondrial disease called mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) disease, the process of adding amino acids to growing protein chains in mitochondria is disrupted, leading to reduced mitochondrial energy production. There are currently no effective treatments for these conditions.  

Previous studies in people with mt–aaRS disease have suggested that supplementing their diet with higher doses of specific amino acids may lead to improvements in their symptoms. The aim of this project is to test amino acid supplementation as a potential treatment in ten people with mt-aaRS disease. The researchers will aim to test whether these supplements lead to improvements in symptoms, assess their safety, and determine the most effective treatment dose.  

Developing new therapies for mt-aaRS conditions is difficult due to their rarity, as well as the diversity of symptoms. If this project is successful, amino acid food supplementation could be delivered in the future as a quick, affordable and safe treatment for these conditions. It’s important for careful studies like this one to assess the benefits and safety of dietary supplements before recommendations are made to people living with these conditions.