Foundation for Mitochondrial Medicine

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Foundation for Mitochondrial Medicine

Mitochondrial Disease

Overview of Mitochondrial Disease


Mitochondrial disease or dysfunction is an energy production problem. Almost all cells in the body have mitochondria, which are tiny “power plants” that produce a body’s essential energy.

Mitochondrial disease means the power plants in cells don’t function properly. When that happens, some functions in the body don’t work normally. It’s as if the body has a power failure: there is a gradation of effects, like a ‘brown out’ or a ‘black out’.

Scientifically, it is actually a category or group of diseases. That’s why mitochondrial disease takes many different forms and no two people may look alike.

It can look like any number of better known diseases: Autism , Parkinson’s , Alzheimer’s , Lou Gehrig’s disease (ALS), muscular dystrophy, and chronic fatigue syndrome. Staying with the power plant analogy, power plants provide energy to a large community with each part of the community requiring varying degrees of power; in the same way, mitochondria provide energy to various organs of the body. So, when there is a mitochondrial dysfunction, a “black out” looks like Leigh’s Disease, severe and fatal, while a “brown out” might be severe, but not lethal.

What Happens To You When You Get It?

Mitochondrial disease primarily affects brain, heart and muscle in varying levels of severity.

Depending on which cells of the body are affected, symptoms may include:

  • Poor growth
  • Loss of muscle coordination, muscle weakness
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Mental retardation
  • Heart, liver or kidney disease
  • Gastrointestinal disorders, severe constipation
  • Respiratory disorders
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures
  • Thyroid dysfunction
  • Dementia

In school, children with mitochondrial disease often seem to work in “spurts” and then “peter out,” becoming lethargic and finding it difficult to concentrate. It is essential to understand that these periods of fatigue are not due to the child “zoning out,” but rather total exhaustion from deep within the cellular level of their existence.

It ranges from intermittent difficulty thinking, remembering, moving and acting, to severe handicaps. Some results may be fatigue, muscle weakness and diabetes. And all this is overlaid by good and bad days caused by significant inconsistency-like the electricity flickering in different areas of a community.

Though the impression most have of mitochondrial disease is a disorder that presents itself at birth, it can appear at any age. For some it develops over time. We’re learning it’s not at all rare but, due to a lack of physician and public awareness, this disease is not often diagnosed. Only in the past 10 years, with advances in genetics and molecular biology, have we a better understanding of the complexity in mitochondrial disorders. Even so, the definitive cause (or causes) of mitochondrial disease continues to evolve.

1 in 2,500 are affected by mitochondrial disease
1 in 2,500 are affected by Cystic Fibrosis
1 in 68 individuals are affected by Autism
1 in 500 are affected by Parkinson’s
1 in 85 are affected by Alzheimer’s
1 in 25,000 are affected by Leigh’s Disease, a fatal form of mitochondrial disease
1 in 50,000 are affected by Lou Gehrig’s Disease (ALS)

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