What causes mitochondrial disease?
Our mitochondria perform many metabolic tasks but ‘mitochondrial disease’ refers specifically to problems with the task of converting energy from one form into another using the specialised machinery within the mitochondria.
It occurs when our mitochondria aren’t able to provide the energy our cells need to work properly. It’s a metabolic disorder – simply put that means one of the processes by which your body makes, uses or disposes of certain materials is abnormal.
Without the right amount of energy, our cells cannot do their job and they stop performing and start to die. If a lot of mitochondria in the body are affected, especially in important body organs, a mitochondrial disorder can be very serious and often fatal.
Each affected individual will have different mitochondrial disease symptoms and severity because a different combination of their mitochondria are working and not working within each cell, and each person might also have different cells in the body affected.
The underlying genetic cause may be different for different people, but all will result in the inability of the mitochondria to produce the right amount of energy which causes the disease.
Some types of mitochondrial disorder affect only one organ, and some affect multiple organs.
There are times when particular organs or body systems are affected in a recognisable pattern and these have been given ‘syndrome names’ like for example Alper’s, Leigh’s disease, MELAS or MERRF to name just a few.
Mitochondrial dysfunction might also be classified by the specific complex of the respiratory chain that it affects e.g. Complex I, or by the specific gene mutation that has caused it.
Whether you’ve just received a mitochondrial disease diagnosis or have been living with the condition for some time now, you’ll find answers to lots more of the questions you may have over in our Q & A section.
