Mitochondrial Disease Awareness

What are mitochondria?

Mitochondria are tiny powerhouses located in every cell in the body except red blood cells. They are responsible for producing approximately 90% of the energy needed to sustain life. Mitochondria are unique. They have their own DNA. Unlike regular DNA which is inherited from the mother and father, mitochondrial DNA is only inherited from the mother.

Many believe since mitochondria make their own DNA, it is only the mitochondrion's DNA which creates disease. This is not true. It takes about 3,000 genes to make a mitochondrion. Only 37 of those genes are encoded by the mitochondrion's DNA. The other genes needed to make a mitochondrion are encoded for by the cell's nucleus and exported to the mitochondria. Thus, mutations in either the cell's DNA (inherited from the mother and father) or the mitochondrion's DNA (inherited only from the mother) can cause mitochondrial disease. Thus, Mitochondrial Disease can be passed down from one's mother, father or both parents.

What is Mitochondrial Disease?
When mitochondria begin to fail, the body does its best to conserve energy. High energy demanding organs such as the brain, gastrointestinal tract, heart and muscles are the most affected systems. Symptoms arising from decreased energy to these organs include seizures, strokes, heart arrhythmias, an inability to properly digest food, difficulty walking, etc. As more and more mitochondria fail to produce energy, symptoms increase in severity. If enough mitochondria fail in one organ system, organ failure can occur.


Mitochondrial Disease is extremely difficult to diagnose since it presents differently in every person. People with the same gene mutations may vary from having no symptoms to being bed ridden and on life support. Mitochondrial Disease is often suspected when three or more organ systems are involved.

Mitochondrial Disease is not one specific condition. Rather, it is a general term applied to thousands of various medical illnesses. Some of the specific illnesses have names such as MELAS (myopathy, encephalopathy, lactic acidosis and stroke-like episodes), CPEO (chronic progressive external ophthalmoplegia), Leigh's Disease, etc. Other conditions are extremely rare and have no names. They are simply referred to by the genetic mutation which causes the disease.

Mitochondrial Disease Facts
Mitochondrial Disease is a chronic (long-lasting) and progressive disease. There are no cures for this illness. There are supplements such as carnitine, Co-Q 10, vitamins, minerals and herbs which help support the body. However, there is nothing which can prevent the progression of the disease.

Approximately one in 5,000 people have a Mitochondrial Disease.

Every year, more children die from Mitochondrial Disease than from all childhood cancers combined.

Although Mitochondrial Disease is most often seen in children, adult onset is becoming more and more common. This is partly due to the increased awareness about Mitochondrial Disease. Many adults in the past, who have had non-specific symptoms affecting multiple organ systems, were often told they were making up their condition or were simply cast off into other generalized conditions such as chronic fatigue syndrome and fibromyalgia. As more and more in the medical community are recognizing Mitochondrial Disease as a medical condition (and the internet makes it possible for patients to do their own research), Mitochondrial Disease is being diagnosed more frequently in the adult population.

The Future
Although there are no cures for Mitochondrial Disease, the future does look promising. Children and adults are being diagnosed sooner with Mitochondrial Disease which means symptoms can be detected and treated faster. Supplements have made a huge improvement in slowing the progression for many folks with Mitochondrial Disease. Also, advances in other areas of medicine such as portable home ventilators, home IV fluids, IV nutrition (TPN), feeding tubes, etc., have made it possible for many with Mitochondrial Disease to continue living.

Will there ever be a cure? Only God knows. Until then, may we raise awareness, support one another and try our hardest to make each day our best day yet.