Mitochondrial Disease

affects different people
at different ages
in different ways.

Check out our case studies above and ‘Q & As’ below. Please note that this is general information only and not medical advice. Any specific health concerns should be taken up with a medical practitioner.

Q: So, what is ‘mito’?

A: It’s short for Mitochondrial Disease.

Q: What’s mitochondrial disease?

A: It’s a genetic condition affecting the body’s energy production.

Q: What are mitochondria?

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.

Mitochondrial cell anatomy

Q: How common is it?

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 4300 adults are affected.

Q: How come I’ve not heard of it?

A: It’s a relatively newly-discovered illness compared to many of the more well-known illnesses.

Q: Is it a serious illness?

A: It can be life-limiting, yes. 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.

Q: Does it affect a particular age group?

A: It can onset at any age.

Q: How do people get it?

A1: The simple answer: Through having a faulty gene. This can be hereditary from one or both parents, or can happen spontaneously. 

A2: 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. 

Genes affect mitochondrial function

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.

Q: How is mito diagnosed?

A: If it’s a known variant it can be diagnosed through genetic screening. Unfortunately, only 300+ 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.

Q: What are the symptoms?

A: Unfortunately, there is no simple answer to this because mito is so variable and complex. As you might expect, lack of energy is one common symptom – but because mito 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.

The symptoms of Mitochondrial Disease

Q: Can it be treated or cured?

A: There are no treatments or cure available currently.

Q: How is mito linked to other common conditions?

A: Many common conditions which affect millions of people are known to involve mitochondrial damage – just like mitochondrial disease.  These include dementia, diabetes, epilepsy, heart disease, sepsis, stroke, some cancers … 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.

Mitochondrial Disease linked conditions

Q: Why is research so vital?

A: Research into mito could not only help those with  mitochondrial disease but also the millions of people with common conditions also known to involve mitochondrial dysfunction.

 

Q: Are there any other names for mito?

A: Mitochondrial disease itself might be called:

  • mitochondrial disease
  • mitochondrial disorder
  • or mito  – as in our charity name

Some of the many variants of mitochondrial disease can be grouped together.  So there are names for ‘types’ of mito too, such as:

  • Mitochondrial Depletion Disorder or Syndrome  – where there is significantly less mitochondrial DNA found in the muscle, liver and brain
  • Mitochondrial Myopathies – where the muscles are primarily affected
  • Mitochondrial Oxidative Phosphorylation Disorders – where there are defects in our ‘oxidative phosphorylation’ or OXPHOS system, vital to energy production

The variants themselves can also have individual names – many of which stand for longer names – such as Alpers, LHON, KSS, Leigh Syndrome, MELAS, MERRF, NARP, TK2D etc.

Q: How can I find out more?

A: The NHS Rare Mitochondrial Disorder Service have a brilliant information section provided by The Lily Foundation: http://mitochondrialdisease.nhs.uk/patient-area/questions-answers/

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