Mitochondria are the powerhouses of the cell, involved in ATP production. ATP is the chemical energy used by the body to run itself.
Many forms of mitochondrial defects require a muscle biopsy to determine if any defects exist. A few can be done by blood test alone, plus some can be tested for by blood tests in individuals wherein a particular mitochondrial defect is already known to exist in the family.
Unfortunately not all mitochondrial defects are fully known, and so cannot be tested for directly. Therefore what is looked for is indications of a mitochondrial defect in things like muscle biopsies, in the form of ragged red fibers for instance, plus other things.
A high lactic acid level is often an indication. Plus, in anyone who has three or more body systems affected, such as circulatory, respiratory, and digestive for example, suspect a mitochondrial defect.
Some common nutritional treatments include coenzymeQ10, L carnitine, and B vitamins. These are nutritional supplements that help the body to function better, even when certain key enzymes dealing with the production of ATP are reduced in number or even absent altogether. They are not a cure however, they just help an individual function at a higher level. Some individuals are helped more than others.
Unfortunately, at this time a cure isn't yet on the horizon. Organizations such as MDA and UMDF are busy promoting awareness, and raising funds to help find a cure. Mitochondrial defects fall under the MDA's umbrella of diseases, because a lot of mitochondrial defects are neuromuscular in presentation.
Mattie Stepanek, a poet who wrote the Heartsongs series, and National Goodwill Ambassador for the MDA from 2002 until his death in 2004 was one well known example of a person with a mitochondrial defect.
Many mitochondrial defects are maternally inherited, meaning they are passed through the mother only. Other forms are autosomal dominant, autosomal recessive, and x linked recessive. There are also forms where the cause or causes are unknown. Environmental factors can play a part.
The effects of these interrelated disorders can be anywhere from mild to overwhelmingly major. One person may present with diabetes, another with seizures, and another with a heart condition. All caused by the same defect. This creates a problem with diagnosis, since there can be a wide variety of symptoms presented. That is why if three or more body systems are affected, think mitochondria, because very few other diseases can cause this type of presentation. Most of those would also likely be metabolic in origin.
So, To Sum It All Up:
- If you have odd symptoms of a wide variety, as in three or more body systems affected, think mitochondrial.
- If you have high lactic acid levels, think mitochondrial.
- If you have a muscle biopsy, even if no defect is detected, but oddities, such as ragged red fibers are present, think mitochondrial.
However, the lack of any or all of these does not rule out mitochondrial disease, but the presence of any or all of these is a high indicator that something metabolic or mitochondrial is going on.
