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 — the tiny energy factories found inside almost all our cells.
As a result, potential treatments for mitochondrial myopathies are focused on ensuring that the mitochondria function as well as possible. This is not easy, as a potential treatment needs to not only get into the patient’s muscles, but it also needs to get into a tiny organelle inside each cell of that muscle. However, MDA-funded scientists have made progress. They have identified many of the genetic defects that cause mitochondrial diseases, and they have used knowledge of those genetic defects to create animal models of mitochondrial disease, which can be used to investigate potential treatments.
Some compounds that may help mitochondria function are now under early-stage investigation. MDA is currently funding more than $4.5 million into mitochondrial disease research.