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What is Mitochondrial Disease?

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• Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fail to produce enough energy for cell or organ function.

• Many forms of mitochondrial disease are known, arising from defects in both the mtDNA and the cell’s nuclear DNA (nDNA).

• Mitochondrial disease can be inherited in a number of ways.

• Mitochondrial disease often presents very differently from individual to individual.

• One individual in a family or many individuals affected over a number of generations may be affected.

• Much of what we know about these diseases has been discovered since 1940. In 1962, the first patient was diagnosed with a mitochondrial disorder. In 1963, researchers discovered that mitochondria have their own DNA or “blueprint” (mtDNA), which is different than the nuclear DNA (nDNA) found in the cells’ nucleus.