What is Mitochondrial Disease?

Mitochondria are effectively the power stations of the body. If they don’t function properly and produce enough energy for the body’s cells, then mitochondria dysfunction occurs. Mitochondrial diseases are long-term, genetic, often inherited disorders that are life limiting with very few treatments and currently no cure.

Mitochondria exist in nearly every cell of the human body and create 90% of the energy you need to sustain life and support organ function. Symptoms of the disease vary hugely between individuals, but the most common symptoms are fatigue, neurological problems, visual and/or hearing impairment, heart, liver or kidney dysfunction, muscle weakness and poor growth, to name but a few.

Mitochondrial diseases affect people differently. Each individual affected will have a different combination of mitochondria that are working and not working within each cell. Some people can have the same condition as another but with very different symptoms, prognosis and treatment. However, there are times when some conditions create recognisable patterns and these have specific names, such as Alper’s disease, Leigh’s disease, MELAS or MERRF. Please take a look at our animation below to learn more about the disease and how we help as a charity.

What are mitochondria?

Mitochondria are commonly known as the ‘powerhouses of the cell’ as they are the part of the cell responsible for turning the sugars, fats and proteins we eat into energy for the body. Mitochondria produce around 90% of our cellular energy, and are essential for producing the energy that cells need to survive. They contribute in a variety of ways to ensure our well being and are central to how our bodies respond to infections, injury and how our bodies respond to changes that lead to cancer and ageing. They are essential to our survival, so when mitochondria stop working, serious diseases are the result. 

What can we do?

Research is of the utmost importance to us, and without research we will never be able to find better more effective treatments, and will never be able to find that all elusive cure. We’ll be investing in the most promising research projects to ensure a better, brighter future for mito sufferers. In the interim, we will support families and individuals affected by mito and you can find out more about the ways in which we help on our What do we do? page. There is much that we can do, but there is much that needs to be done – help us on our mission to fight mitochondrial disease, because mito matters.

Mitochondrial Diseases

Below you will find specific mitochondrial syndromes that have been taken directly from the Wellcome Centre for Mitochondrial Research website. It is not an exhaustive list but covers the most common syndromes.

Mitochondrial Diseases

Alpers’ syndrome

Alpers’ syndrome is a mitochondrial disease that is part of a larger group of conditions collectively known as mitochondrial DNA depletion disorders. It...

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MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis and stroke like episodes; MIDD - Maternally Inherited Diabetes and Deafness; m.3243A>G Mutation This is one of...

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Leigh syndrome

Who does it affect? Leigh syndrome affects approximately 1 in 40,000 newborns, with symptoms usually starting in the first year of life. Though...

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Mitochondrial DNA Depletion Syndrome (MDDS)

It is important that mitochondrial DNA (mtDNA) is correctly maintained to allow the mitochondria to function. Problems with mtDNA maintenance can reduce the...

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Large Scale mitochondrial DNA Deletions – Kearn’s-Sayre...

The term single deletion describes a piece of DNA that is missing from lots of copies of mitochondrial DNA in each cell. This...

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NARP – Neurogenic Weakness, Ataxia and Retinitis...

This syndrome describes a group of patients who have a combination of features including weakness, unsteadiness of movement, impaired sensation (neuropathy) and visual...

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Multiple Mitochondrial DNA Deletions

“Multiple mitochondrial DNA Deletions” refers to different sized pieces of mitochondrial DNA that are missing. The genetic problem here is often inherited, but...

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MNGIE – Mitochondrial Neuro-Gastro-Intestinal Encephalopathy

This is a rare mitochondrial condition which is due not to a defect in mitochondrial DNA but due to a defect in an...

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MERFF – 8344A>G Mutation

This is also a common genetic fault causing Mitochondrial Disease. When present it frequently runs in families, showing a pattern of maternal inheritance. In patients...

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Leber’s Hereditory Optic Neuropathy (LHON)

This is the commonest of the Mitochondrial Diseases. Ninety five percent of patients carry one of three specific genetic faults (called point mutations)...

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