What is Mitochondrial Disease?

Mitochondrial diseases are complex inherited disorders that affect the body's ability to adequately produce energy. As a result, development and function of major systems like the heart, muscles and brain are affected. Now, at least 1 in 3-4,000 individuals are being diagnosed with this disease and many more are likely affected. Many patients are left for months or years to struggle with no answers, with complex medical symptoms and with little support from the medical community.

Recent research indicates that mitochondrial dysfunction contributes to a number of well-known disorders including Autism, Parkinson's Alzheimer's, Huntington's disease, ALS, certain types of muscular dystrophy, as well as certain types of deafness, diabetes and heart failure.

When the mitochondria fail to function properly and the energy production inside the cells of our body decreases, it is similar to a major city's power plant failing causing either isolated or widespread problems. Normally, the human body breaks down foods to form energy packets known as ATP that are needed to perform all of its bodily functions. This ATP is created by a series of enzymes in a process called oxidative phosphorylation. These enzymes live inside of the mitochondria and are responsible for making ATP (i.e. making mitochondrial function like tiny batteries).

Mitochondrial disease causes a decrease in energy production that generally affects brain and muscle most severely. However, symptoms are diverse and may include growth difficulties, developmental delays, mental retardation, movement disorders, seizures, vision loss, deafness, heart disease, kidney disease and liver disease.

The prognosis of a particular mitochondrial disorder varies significantly among individuals. In most cases, the mitochondrial disease produces lifelong symptoms, but does NOT result in death.