Check out our case studies above, and video and FAQs below. You can also find out more about our missions’ individual stories here. Please note that this is general information only and not medical advice. We would recommend you direct any specific health concerns to a medical practitioner.
A: It’s short for mitochondrial disease.
A: It’s a genetic condition affecting the body’s energy production.
A: They’re the ‘battery packs’ in everyone’s cells. When they’re faulty, the body breaks down – especially the major organs which require most energy.
A: Individual variants can be very rare. But because there over 1000 variants, together they actually form the most common genetic illness. Around 1 in 5000 adults and children are affected. That is similar to say, cystic fibrosis and motor neurone disease – and yet mitochondrial disease is barely heard of.
A: Mitochondrial disease is a relatively newly-discovered illness compared to many of the more well-known illnesses.
A: Mitochondrial disease can be life-limiting, yes. Generally speaking, the younger the onset of symptoms, the more serious it tends to be. It also depends what variant someone has, and what parts of the body are affected.
A: Mitochondrial disease can onset at any age and therefore affects all age groups.
A: The simple answer: Through having a faulty gene. This can be hereditary from one or both parents, or can happen spontaneously.
The more complex answer: There are an estimated 20,000 genes in our ‘whole body’ – or nuclear – DNA and 1000+ of those can affect mitochondrial function if they’re faulty.
To complicate things further, the mitochondria themselves also have their own DNA which has 37 genes which can also cause reduced mitochondrial function if they’re faulty. This is inherited from the mother only and means all children are definitely affected – but this can be to very varying degrees.
A: If it’s a known variant, mitochondrial disease can be diagnosed through genetic screening. Unfortunately, only around 350 of the 1000+ variants are identified so far, so not everyone suspected to have mito will be able to get a specific diagnosis. Blood tests, urine tests, MRIs and muscle biopsies can all give indications of whether someone is likely to have mito.
A: Unfortunately, there is no simple answer to this because mitochondrial disease is so variable and complex. As you might expect, lack of energy and fatigue is one common symptom – but because mitochondrial disease can affect any part of the body there are many other symptoms easily mistaken for other illnesses. Different types of mito will have different ‘collections’ of symptoms and these can vary in combination and in severity.
A: There are no treatments or cure for mitochondrial disease right now. There are some supportive therapies available but any treatment is to address symptoms, not the underlying cause, i.e. the mitochondrial disease.
A: Many common conditions which affect millions of people are known to involve mitochondrial damage – just like mitochondrial disease does. These include autism, cancer, COVID-19, dementia, diabetes, epilepsy, heart disease, MS, motor neurone disease sepsis, stroke… and many more.
In these conditions, the mitochondrial dysfunction is secondary. It’s not the main illness, but happens as a result of the main illness – unlike in mitochondrial disease where it’s the primary issue i.e. the root cause of the condition.
A: Mitochondrial research could not only help those with mitochondrial disease but also the millions of people with common conditions also known to involve mitochondrial dysfunction. How well our mitochondria work is also central to wellbeing and ageing well – and therefore hugely important to us all. Find out more about mitochondrial research here.
A: Mitochondrial disease can also be called a mitochondrial disorder. It can also be shortened to ‘mito’, as in our charity’s name.
There are many variants of mitochondrial disease and some of these can be grouped together. So there are names for different ‘types’ of mito too, such as:
The individual variants also have names. Some are named after the gene which is faulty such as TK2D, MRPL44 and GFER. Many are abbreviations for longer names which describe the condition such as LHON, MELAS, MERRF and NARP etc.
A: We recommend reading the information on the following website links:
The NHS Rare Mitochondrial Disorder Service:
http://mitochondrialdisease.nhs.uk/patient-area/questions-answers/
The Lily Foundation:
https://www.thelilyfoundation.org.uk/get-informed/questions-answers/
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