Mitochondrial Disease – What is Mitochondrial Disease?
Mitochondrial disease results from the dysfunction of tiny 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 make most of the energy, which we all need to grow and live.
Those organs in the body which need 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 and bone marrow and these are the organ systems commonly affected by mitochondrial disorders.
Mitochondrial disease occurs when mitochondria 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 their 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 disease. Others will have muscle disease, known as mitochondrial myopathy, cardiac disease known as cardiomyopathies, endocrine, renal or bone marrow disease. Some patients have a mixture of symptoms in addition to other features.
There is no real evidence to date of any 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 hope may lie with genetic technology. Techniques for adapting the mitochondrial genome are now being investigated. Whereas nuclear manipulation would necessitate treatment for life, manipulation of the mitochondrial genome would result in an one-off treatment thus providing a cure for Mitochondrial Disorders.
Sophie Patmore lives her life permanently linked to a breathing machine. Her muscular tissues are astoundingly fragile caused by an undiagnosed hereditary condition, currently perceived as an exceptionally rare form of mitochondrial disease. To see her story about living life with mitochondrial disease, take the time to view her web site available at www.thesophiestory.co.uk
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