• Question: what is mitochondrial disease?what can it do to you?

    Asked by cenniy to Ollie, Georgia on 10 Jun 2011. This question was also asked by hoola, iamsirius.
    • Photo: Ollie Russell

      Ollie Russell answered on 10 Jun 2011:

      Mitochondrial diseases are a set of diseases that affect the mitochondrion. Mitochondria make most of the energy for the cell so the disease basically mean that you dont make enough energy for your cells. This means that the cells cant function properly. So if you had a neuron that couldnt make enough energy this would mean that it wont be able to send electrical signals as well as normal neurons, or if you have muscle cells that are affected it can cause weakness and stops you from exercising because you get too tired.

      The diseases affect mainly muscle and neurones beacuse these need alot of energy to work properly. This means that people with mitochondrial disease have mental and physical disabilities. If someone has really bad mitochondria then it is likely that they wont make it too adulthood.

      The diseases can be caused by lots of different things such as genetic mutations, but they all have the same effect… the cell doesnt get enough energy.

    • Photo: Georgia Campbell

      Georgia Campbell answered on 10 Jun 2011:

      As Ollie said, mitochondrial disease is actually a broad term for lots of symptoms that can be caused by problems with mitochondria.

      Mitochondria are like the batteries for cells, so when something goes wrong with the mitochondria in a cell it can’t work properly – just like a toy or a remote stops working if the batteries in it don’t work.

      Not all of the mitochondria in a person with mitochondrial disease will be affected, so the symptoms a person gets depends upon which cells have ‘bad mitochondria’. Some people aren’t very badly affected at all, and only suffer from a little bit of muscle weakness. However, we do get some patients with much more severe symptoms – heart problems, trouble breathing, deafness, diabetes, and learning disabilities are some of the more severe possible symptoms. Patients can present with any combination of these symptoms.

      Mitochondrial disease is quite rare, though it affects more people than you’d think considering how few people have heard of it! Because the symptoms are so diverse, mitochondrial disease has been quite difficult for doctors to diagnose, but it is being more easily picked up now that more research is being done on mitochondria,and more doctors know what to look for.

      There’s still a lot we don’t know about mitochondrial disease though, and there’s still no cure for it. My job is to look at links between deletions of mitochondrial DNA and the disease symptoms that these can cause, to try and get more information on the disease (and maybe even try to work towards a cure!)

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