What is Mitochondrial disease?

The term “Mitochondrial disease” refers to a group of disorders. Each of these conditions involves a problem with mitochondria. Mitochondria are tiny structures inside almost every cell in your body; all the way from your skin to the organs inside your body. Their main job is to use the food and oxygen that enter the cells to make energy. Almost all of the energy your body needs for daily life and growth comes from mitochondria.

There are so many types of Mitochondrial disease it would be impossible to name them all, and many have yet to be discovered. Each condition is the result of a genetic mutation – a specific change in the genetic material of the mitochondria. The mutation causes the mitochondria to fail.

When mitochondria fail, less and less energy is converted in the cells. The cells may stop working or die. Depending on where the affected cells are, parts of the body may not function properly and many health problems can result. The symptoms of Mitochondrial disease can range from mild to severe. 

At least 1 in 6000 people have Mitochondrial disease.

There is no cure for mitochondrial disease. However, many people have a normal life span with their disease well managed.

Research is underway across the world that will help us learn more about these diseases and find new treatments and therapies.

On this website, we talk generally about mitochondrial disease, because the questions and needs of patients are similar, whether a specific mutation has been found or not.