What are examples of mitochondrial genetic disorders?

The most common forms of mitochondrial disease caused by recurrent mtDNA mutations first recognized 30 years ago include:

• Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.
• Myoclonic epilepsy with ragged red fibers (MERRF)
• Neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome.

What diseases are caused by malfunctioning mitochondria?

Malfunctioning mitochondria have been linked to diabetes, heart disease, Alzheimer’s disease, Parkinson’s disease and even normal aging.

What is Leigh’s syndrome?

Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.

What is the life expectancy of a child with mitochondrial disease?

A small study in children with mitochondrial disease examined the patient records of 221 children with mitochondrial disease. Of these, 14% died three to nine years after diagnosis. Five patients lived less than three years, and three patients lived longer than nine years.

What gene causes mitochondrial disease?

Mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) can cause mitochondrial disease. Most nDNA (along with any mutations it has) is inherited in a Mendelian pattern, loosely meaning that one copy of each gene comes from each parent.

What causes mitochondrial myopathy?

Mitochondrial myopathies may be caused by mutations in the body’s nuclear DNA (the DNA found in the nucleus of cells) or by mutations or deletions in the body’s mitochondrial DNA (mtDNA, the DNA found in cells’ mitochondria).

Is mitochondrial disease an autoimmune disease?

Mitochondrial DAMPs are important in triggering and maintaining immune responses. Mitochondrial dysfunction may play a role in the pathophysiology of autoimmune disease.

At what age is mitochondrial disease diagnosed?

Mitochondrial disease is an inherited condition. Your mitochondria can also be affected by other genetic disorders and environmental factors. You can learn more about the biology behind mitochondrial disease here. Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.