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.