Mitochondrial disorders often impact multiple organ systems, such as muscles, eyes, brain, or liver. These disorders, ranging from mild to severe, can be identified at any point during a patient’s life. Doctors may suspect a mitochondrial disorder when three or more organ systems are involved and may recommend further testing.
Scientists can study a person’s genes and identify changes in DNA. Some of these changes can cause a gene to function improperly. Most DNA is found within the nucleus of the cell; however, a smaller amount of DNA is found within the cell’s mitochondria. The genetic changes causing mitochondrial disorders can occur in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).