Disease, mitochondrial

Our Mitochondrial Disease Main Article provides a comprehensive look at the who, what, when and how of Mitochondrial Disease

Medical Definition of Disease, mitochondrial

Disease, mitochondrial: Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders including, for example:

  • An eye disease called Leber's hereditary optic atrophy;
  • A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and
  • A form of dementia called MELAS for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes.

The mitochondria are normal structures located outside the nucleus in the cell's cytoplasm. Each mitochondrion has a chromosome made of DNA that is quite different from the better known chromosomes in the nucleus. The mitochondrial chromosome is much smaller; it is round (whereas the chromosomes in the nucleus are normally shaped like rods); there are many copies of the mitochondrial chromosome in every cell; and no matter whether we are male or female, we inherit our mitochondrial chromosome from our mother.

All mitochondrial diseases were entirely enigmatic before it was discovered that they were due to mutations not in regular chromosomes but in the chromosome of mitochondria.


Quick Guide8 First Aid Kit Essentials for Scrapes, Cuts, Bug Bites, and More in Pictures

8 First Aid Kit Essentials for Scrapes, Cuts, Bug Bites, and More in Pictures

Subscribe to MedicineNet's General Health Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 12/29/2016

Health Solutions From Our Sponsors