What is mitochondrial disease?

A typical human cell relies on hundreds of mitochondria to meet its energy needs. The symptoms of mitochondrial disease vary, because a person can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body.

What are the symptoms of mitochondrial myopathy?

The main symptoms of mitochondrial myopathy are muscle fatigue, weakness, and exercise intolerance. The severity of any of these symptoms varies greatly from one person to the next, even in the same family. In some individuals, weakness is most prominent in muscles that control movements of the eyes and eyelids.

What is the function of mitochondria?

Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell’s biochemical reactions. Chemical energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP). Mitochondria contain their own small chromosomes.

What are mitochondrial myopathies and encephalomyopathies?

Mitochondrial diseases that cause prominent muscular problems are called mitochondrial myopathies (myomeans muscle and pathos means disease), while mitochondrial diseases that causes both prominent muscular and neurological problems are called mitochondrial encephalomyopathies (encephalo refers to the brain).

What is mitochondrial dysfunction and how is it treated?

Mitochondrial dysfunction occurs when the mitochondria do not work as well as they should due to another disease or condition. This is distinct from the mitochondrial disease in that it does not usually involve an inherited genetic component.

What is the pathophysiology of mitochondrial DNA (mtDNA) disease?

Quantitiative changes Specific disorders 2° to Nuclear mutations mtDNA: General disease features Laboratory: Lactic acidosis Pathology: Mitochondrial proliferation in muscle Massive Produces ragged-red fibers Mutant mtDNAs accumulate preferentially in ragged-red fibers Ragged-red fibers are typically negative for cytochrome c oxidase activity

What organ systems are affected by mitochondrial disease?

People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys.