About Mitochondrial Diseases...

What is Mitochondrial Disease?

Imagine a major city with half its power plants shut down. At best, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy facilities shut down. The brain would be impaired, vision would be dim, muscles would twitch spastically or would be too weak to allow your body to walk or write, your heart would be weakened, and you would not be able to eat and digest food.

For large numbers of people, especially children, this is precisely the situation in which they find themselves due to defects in the mitochondria-organelles found in almost every cell of the body which are responsible for the body’s energy production. Mitochondrial diseases compromise their lives and can be fatal.

What are mitochondria?

Mitochondria is a part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. Mitochondria produce energy in the form of adenosine triphosphate (ATP), which is then transported to the cytoplasm of a cell for use in numerous cell functions.

What are mitochondrial diseases?

There are more than 40 different identified diseases that that make up Mitochondrial diseases. Each one has different genetic features. The common factor among these diseases is that the mitochondria are unable to completely burn food and oxygen in order to generate energy.

The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run almost perfectly in order to have a continuous supply of energy. When one or more components of these chemical reactions do not run perfectly, there is an energy crisis, and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body.

This poison can stop other chemical reactions that are important for the cells to survive, making the crisis even worse. In addition, these poisons can act as free radicals (reactive substances that readily form harmful compounds with other molecules) that can damage the mitochondria over time, causing damage that cannot be reversed. Unlike nuclear DNA, mitochondrial DNA has very limited repair abilities and almost no protective capacity to shield the mitochondria from free radical damage.

What are the symptoms of mitochondrial diseases?

Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.