What Is Mitochondrial Disease?


Quick Answer

Mitochondrial disease is an inherited disorder resulting in mental disabilities as well as developmental or physical disorders, according to Mito Action. There are several forms of mitochondrial disease, including Parkinson's, Alzheimer's and type 2 diabetes. Approximately one person out of 2,000 has a genetic mitochondrial disorder.

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Although some mitochondrial diseases are evident at birth, the Foundation for Mitochondrial Medicine states that a mitochondrial disease can develop at any time during a person's life. While the brain and heart seem to be affected the most, other body systems, such as renal, hepatic, endocrine and respiratory systems, also can show symptoms of mitochondrial disease.

The Cleveland Clinic believes that mitochondrial diseases develop due to DNA mutations within the nucleus of cells, either from toxin exposure or other disease processes. Mitochondrial diseases are not curable although a variety of treatment options can ease many of the symptoms and even improve some of them.

One example of a mitochondrial disease is creatine deficiency syndrome. According to the United Mitochondrial Disease Foundation, the disorder is caused by a lack of creatine in the brain. Symptoms include epilepsy, hyperactivity, autism-like behaviors and mental retardation. While it is not curable, if treatment begins early in life by using supplemental creatine, the symptoms can improve.

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