What is Mitochondrial Disease

Mitochondrial disease results from dysfunction of mitochondria. Mitochondria are tiny structures which are present in every cell of the body (except red blood cells). The mitochondrion has been called the 'powerhouse' of the cell because these tiny structures produce most of the energy, which we all need to grow and live.


Those organs in the body which lots of energy to work properly are most dependent on proper functioning mitochondria. The most energy dependent organs are the brain, heart, skeletal muscle, kidney, endocrine glands and bone marrow and these are the organ systems commonly affected by mitochondrial disorders.

Mitochondrial disease occurs when mitochondria within the body cells do not work correctly. Mitochondrial diseases often involve the brain due to the tremendous energy requirements of the brain cells. Mitochondrial diseases are very variable in features and this is referred to as clinical heterogeneity.


Clinical heterogeneity is evident in many patients whom have very different symptoms. Some patients predominately suffer brain disease or nerve disorders. Others will have muscle problems, known as mitochondrial myopathy, cardiac disease known as cardiomyopathies, endocrine, renal or bone disease. Some patients have a mixture of these in addition to other features.


There is no convincing evidence to date of any clear benefit of drug therapies in most mitochondrial disorders or those neurodegenerative conditions with evidence of mitochondrial dysfunction, and therefore attention has turned to the development of genetic therapies.


New horizons and hopes may lie with genetic strategies. Techniques for manipulating the mitochondrial genome are now being investigated. Whereas nuclear manipulation would require treatment for life, manipulation of the mitochondrial genome would result in an one-off treatment thus providing a cure for Mitochondrial Disorders.

About the Author

Sophie Patmore has to be always attached to a ventilator. Her muscles are very weak due to an undiagnosed genetic illness, currently thought to be an extremely rare kind of mitochondrial disease. To read her story with regards to living life together with mitochondrial disease, please visit her website available at www.thesophiestory.co.uk

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