Mitochondrial Disease

Mitochondrial Disease is a complex disease and therefore difficult to explain in words alone.
We have created a bespoke educational animation to explain how vital mitochondria are to sustain life, and also what happens when they go wrong.

Please share this video to educate and raise awareness of Mitochondrial Disease.

What Are Mitochondria? 

In nearly every cell in the body, mitochondria are responsible for producing energy (called ATP) that the cell needs to function. Cells make up tissues and organs in our bodies, for example the heart and liver.

They are like power stations in our bodies, supplying the energy every cell needs to function.

If our cells do not have energy then the tissues or body organs that the cells are made up of do not work properly. In the same way if power stations do not produce enough energy there will be areas of blackout, where parts of the country cannot function.

What Is Mitochondrial Disease?

When a person has Mitochondrial Disease the mitochondria in the cells are not producing enough energy. Sometimes they are not very efficient or they do not work at all.

There is a huge variety in the symptoms and severity of Mitochondrial Disease. It depends on how many cells are affected and where they are in the body.

Every person with Mitochondrial Disease is affected differently. Each individual affected will have a different combination of mitochondria that are working and not working within each cell.

However, there are times when particular body systems are affected in a recognisable pattern and these have particular names, for example Alpers, Leigh’s disease, MELAS and MERRF.

The commonest parts of the body affected are those that have the highest energy demands; brain, muscle, liver, heart and kidney, when these systems are effected Mitochondrial Disease is usually progressive.

Available Treatments

Unfortunately there is no cure for Mitochondrial Disease at present.

Treatment is usually supportive, relieving the symptoms demonstrated, for example treating seizures with medication.

Doctors can also try to make the respiratory chain more efficient by using co-factors and vitamins. Examples of these are Ubiquinone (Co-factor Q10), Thiamine and Riboflavin.

Some people find that using a special diet can help and this varies depending on which part of the respiratory chain is affected. However, this should only be tried with guidance from your metabolic team.

Any metabolic stress on the body, for example an illness, has the potential to cause a worsening or progression of Mitochondrial Disease. This is due to the cells possibly not being able to cope with the extra demand placed upon them.

It is difficult to live in a world where all potential metabolic stresses are removed. Therefore it is important to be aware of these risks so that early medical advice and treatment of any illness can be started.

If you would like further information please visit our Questions and Answers page.