Mitochondrial diseases result from problems with our mitochondria, specialised compartments present within every cell of the body (except red blood cells) that are responsible for producing about 90% of the energy needed by the body – think of them as our cell’s batteries.
When they malfunction, less and less energy is generated within any given cell, which can cause cellular stress and eventually cell death. If this process is repeated throughout the body, whole organ systems begin to fail… especially the heart, brain, muscles and other organs requiring the greatest amounts of energy to function. It’s also important to say that mitochondrial diseases are difficult to diagnose because they affect each person to a different extent, but symptoms that doctors tend to see are seizures, strokes, severe developmental delays, inability to walk, talk, see, and digest food properly.
I have looked after children in hospital with mitochondrial disorders. Sadly they are often very disabled and their life expectancy is usually shortened. I am glad that annabel is studying these conditions and we really need treatments for these children.
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Rebecca commented on :
I have looked after children in hospital with mitochondrial disorders. Sadly they are often very disabled and their life expectancy is usually shortened. I am glad that annabel is studying these conditions and we really need treatments for these children.