What is Mitochondrial Disease?

Print Friendly, PDF & Email

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.