What is mitochondrial disease?

1 Answer
Jan 16, 2017

Mitochondrial disease is a group of diseases caused by dysfunctional mitochondria.

Explanation:

Mitochondrial disease take on unique characteristics both because of the way the disease are often inherited and because the mitochondria are so critical to cell function.

Mitochondrial disease may be caused by mutations in the mitochondrial DNA. This alters the functioning of the mitochondria.
Other causes of mitochondrial disease may be mutations in the nuclear DNA, whose gene products are imported into the mitochondria as well as acquired mitochondrial conditions.

Defects in nuclear encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia, dementia, hypertension, lymphoma, retinopathy, seizures and neuro developmental disorders.

Mitochondria are found in every cell of human body except RBC 's. They convert the energy of food molecules into the ATP that powers most of cell functions.