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Understanding Mitochondrial Disease

 

 

It is estimated that 1 in 2500 – 3000 people are affected by mitochondrial disease

“As many as 2 million Americans suffer from mitochondrial disease. Doctors and researchers have identified hundreds of different subtypes of the disorder. What they all have in common is a malfunction of the mitochondria – tiny substructures, or organelles, found inside every cell in the body. Depending on which types of cells are affected, mitochondrial disease can cause muscle wasting, nerve damage, seizures, stroke, blindness, deafness and more.

“As mitochondrial process food into energy, they create free radicals – highly reactive oxygen ions that can cause damage to proteins. Many experts believe that as cells age, this damage accumulates, weakening the mitochondria irrevocably and doing harm to specific organs – or, more generally, to the whole body.”
(Time Magazine, November 13, 2006,
Michael D. Lemonick)

In order to truly under stand mitochondrial disease, a brief review of cell biology is needed.  Mitochondria are one of many organelles that are found in all cells of the human body (except red blood cells).

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The following links are provided by Foundation for Mitochondrial Medicine

Overview of mitochondrial disease:

http://mitochondrialdiseases.org/mitochondrial-disease/

Diagnostic criteria for mitochondrial disease:

http://mitochondrialdiseases.org/fmm/docs/CLINICAL%20CRITERIA.pdf