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Mitochondrial Disease

More than 40 known types


Updated June 23, 2003

Mitochondrial disease is a difficult disorder to identify because it can take many forms, and range from mild to severe. The problems it causes may begin at birth or not occur until later in adult life. It is estimated that mitochondrial disease affects between 40,000 and 70,000 Americans, occurring in one in 2,500 to 4,000 births.

What is it?
Inside body cells are tiny little parts called mitochondria (as many as 1,000 per cell). The mitochondria make the energy the cells need to grow and do their work in the body. If the mitochondria are damaged or malfunctioning, the cells cannot carry out their functions.

Mitochondria may not function correctly due to a genetic defect, damage caused by drugs, or damage caused by free radicals (destructive molecules).

Many effects, many symptoms
Because mitochondria are in cells all over the body, many different organs may be affected, including the brain and muscles. Some of the problems associated with mitochondrial disease are:

  • Brain: developmental delays, mental retardation, seizures, dementia
  • Nerves: weakness, pain
  • Muscles: weakness, low tone, cramping, pain
  • Heart disease
  • Eyes: twitching, vision loss
  • Kidney disease
  • Respiratory problems

There is no cure for mitochondrial disease. Some helpful treatments include vitamins such as thiamine (B1), riboflavin (B12), vitamin C, and vitamin E. Lipoic acid and coenzyme Q-10 are also useful supplements.

Some researchers are examining using drugs to block lactic acid buildup in the body that is common in mitochondrial disease. Others are trying very low carbohydrate diets to reduce the workload for mitochondria.

Links to other diseases
Researchers are studying mitochondrial disease for clues to other conditions such as cancer, Parkinson's and Alzheimer's diseases, and heart disease. Damage to the mitochondria is thought to be involved with all of those conditions, and a lifetime of mitochondrial damage may be part of the aging process.

Information for this article was taken from:
- Foreman, J. Diseases can affect the power in our cells. The Boston Globe, June 17, 2003.
- United Mitochondrial Disease Foundation Web site.

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