Mitochondria are the structures in the cells that provide the energy for the body. While most of our DNA is found in the nucleus of our cells, we also have mitochondrial DNA (mtDNA). Mutations in mtDNA as well as certain mutations in nuclear DNA can cause a wide range of health problems.
As you would expect, the organs and tissues that require the most energy are those which are most affected by mitochondrial mutations. Some examples of these are the heart, brain and muscles.
A mitochondrial condition might be suspected when an individual has a combination of the following:
- Muscle weakness and wasting
- Problems with movement
- Kidney failure
- Loss of intellectual functions
- Hearing loss
- Heart disease
- Vision problems
With proper diagnosis, therapy may be available to improve symptoms. Knowing the diagnosis can also provide information regarding the potential for other serious complications, such as stroke. Testing can also be used to identify other family members who may be at risk to have the condition or to have an affected child.