What is Mitochondrial Disease?

Mitochondrial disease, or 'mito', is the term given to a group of genetic medical disorders caused by mutations in mitochondria, the tiny organelles that are present in nearly every cell in our bodies and which generate about 90% of the energy we need to live. Cells cannot function properly without healthy mitochondria, so when they fail the consequences can be serious and wide-ranging.

What are the symptoms of mitochondrial disease?

Mitochondrial disorders affect people in multiple ways, depending on which cells are affected. This can make the condition hard to diagnose, as mitochondrial symptoms often resemble those of other serious illnesses. For example, a person with mito may suffer from seizures, fatigue, vision and hearing loss, cognitive disabilities, respiratory problems or poor growth. Any of the body's organs and systems can be affected including the brain, heart, lungs, gut, liver and skin. Examples of inherited mitochondrial diseases include MELAS syndrome, Leigh syndrome and Leber’s disease (LHON). For more information about these and other mitochondrial disorders see our list of the different types of mitochondrial syndromes.

Is there a cure for mitochondrial disease?

There is currently no cure for mitochondrial disorders. However, important steps have been made to make diagnosis faster, easier and less invasive to the patient, and some promising research into effective mito treatments is underway. The more we learn about mitochondrial dysfunction the closer we will be to one day finding a cure.

Find out more

Watch our video explainer narrated by Bill Nighy