What is Mitochondrial Disease

View PDF | Print View
by: patmore1
Total views: 0
Word Count: 289
Date: Sun, 30 Jan 2011 Time: 3:08 PM
0 comments

Mitochondrial disease results from the 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 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 most 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 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 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.

About the Author

Sophie Patmore has to live life always linked to a ventilator. Her muscular tissues are astoundingly fragile as a consequence of an undiagnosed genetic disorder, currently perceived as an incredibly rare type of mitochondrial disease. To read her story with regards to living life with mitochondrial disease, take the time to view her web site available at www.thesophiestory.co.uk