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Mito What???

September 25, 2014
Mitochondrial Disease: The Most Common Disease You’ve Probably Never Heard of…

About 20 years ago, mitochondrial disease was virtually unheard of.  Just 10 years ago, it was considered rare.

Today, according to NORD, a disease is considered rare when less than 200,000 people are affected.  Mitochondrial disease is not a single disease, but rather an entire umbrella of rare diseases.  For example, Alpers disease and Barth syndrome are very different and rare forms of mitochondrial disease.

Every 30 minutes, a child is born who will develop a form of mitochondrial disease by age 10.  This roughly equates to 1 in 4,000 children in the United States.  Numbers aside, It is more common than all forms of childhood cancer combined.  Even though many of the statistics surrounding mitochondrial disease pertain to children, onset of symptoms may occur at any age.

For many, the cause is genetic.  In fact, 1 in 200 individuals have a mutation that could develop into mitochondrial disease during their lifetime.  Sporadic cases are also common.  Cholesterol medications, acetaminophen and all psychotropic pharmaceutics are known to cause mitochondrial damage.  Environmental triggers include at least alcohol and cigarette smoke.

Liz-KennerlyMitochondria are the “power house” within nearly every cell of the human body, except red blood cells.  They produce more than 90% of our energy requirements by converting food and oxygen into fuel.  Our cells cannot function without energy.  When this process involves more than one organ, the result is multi-system disease that is often progressive and can be fatal.

The brain and muscles are more likely to have problems because they use the most energy.

Imagine a major city with half of its power plants shut down.  At the very least, this scenario would produce a “brown out” with large sections of the city performing well below optimum efficiency.  Now, imagine your own body performing under the same conditions.  How would you feel?  You might experience constant fatigue, nausea because digestion could be impaired, GI reflux, muscle weakness as well as vision and hearing loss.

Other symptoms include, seizures, migraines, strokes and muscle cramps.  Conditions secondary to primary mitochondrial disease include, kidney, liver and heart disease, diabetes, autism, irritable bowel syndrome and immune deficiencies.

Many with mitochondrial disease also have autonomic dysfunction.  This means that the body cannot do things it should do automatically, such as regulate blood pressure and heart rate.  Other symptoms of dysautonomia include, dizziness, fainting, excessive thirst, temperature dysregulation, insomnia, and “brain fog”.

Mitochondrial disease is a spectrum.  No two people are alike.  Everyday is different.  Symptoms can vary and change overtime.  Some are mildly affected while others have more severe and debilitating symptoms. It is often progressive and can be fatal.  Children may not survive beyond their teenage years.

Currently, there is no cure or FDA approved treatment for mitochondrial disease as a whole.  Fortunately, there is one drug in pipeline.  Right now, the only treatment is symptom management.

Dysfunction of the mitochondria is also linked with a multitude of other very common or well-known diseases and conditions including, Alzheimer’s, Multiple Sclerosis, Parkinson’s, ALS, obesity, type 2 diabetes, lupus and rheumatoid arthritis.  Over 50 million people in the US suffer from these conditions.  Not only that, but mitochondrial dysfunction is also linked with cancer, including a range of solid tumors.


I can be reached at  I am a columnist for the United Mitochondrial Disease Foundation and shared my perspective at their first Congressional Caucus Briefing.