What are Mitochondrial Diseases?
Just as some diseases are named for the part of the body they affect (like heart disease), mitochondrial diseases are so-named because they affect a specific part of the cells in the body. Specifically, mitochondrial diseases affect the mitochondria — tiny energy factories found inside almost all our cells. Mitochondria are responsible for producing most of the energy that’s needed for our cells to function. In fact, they provide such an important source of energy that a typical human cell contains hundreds of them. A mitochondrial disease can shut down some or all the mitochondria, cutting off this essential energy supply. Nearly all our cells rely on mitochondria for a steady energy supply, so a mitochondrial disease can be a multisystem disorder affecting more than one type of cell, tissue or organ. The exact symptoms aren’t the same for everyone, because a person with mitochondrial disease can have a unique mixture of healthy and defective mitochondria, with a unique distribution i