Mitochondria are organelles present in nearly every cell in the body. Their job is to process oxygen and convert substances from the foods we eat into energy and are thus pivotal players in cellular metabolism. Central to mitochondrial biology is the DNA in the organelle (mtDNA): its maintenance, correct RNA processing, and efficient translation are all essential and must be coordinated to ensure proper mitochondrial function.

Mitochondrial dysfunction is the hallmark of a large group of rare genetic disorders, so-called “mitochondrial diseases”. These are chronic (long-term), frequently fatal, disorders that occur when mitochondria fail to produce enough energy for the body to function properly. Mitochondrial diseases can be present at birth, but can also occur at any age as observed in common diseases such as diabetes, heart disease, neurodegenerative diseases, cancer and the normal ageing process. Treatment options are still very limited and mostly involve symptom management.

A deep understanding of the mitochondrial gene expression system and new methods are urgently needed to develop treatments for the full panoply of mitochondrial disorders.