Study Identifies Broader Range of Clinical Presentation for Mitochondrial Disease

According to a story from Wellcome Center Mitochondrial Research, a multi-center collaborative study that involved researchers from different sites around the UK has resulted in an improved understanding of the mutations affecting the mitochondrial DNA gene MT-ATP6which are associated with mitochondrial disease. Using the mitochondrial patient cohort, the researchers were able to find 125 people that carried these mutations.

About Mitochondrial Disease

Mitochondrial disease is a group of genetic disorders that causes the mitochondria not to function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial disease is usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial disease, click here.

Study Results

The researchers described a diverse array of clinical features that where associated with nine distinct mutations affecting MT-ATP6. Over half of the patients did not present with what is currently considered the “classic” features of mitochondrial disease. Common neurological impacts were learning disability, cerebellar ataxia, and axonal neuropathy. Five of the mutations found in the study were responsible for over 90 percent of cases associated with the MT-ATP6 gene. The project lasted for around four years and will improve care and increase the speed of diagnosis for mitochondrial disease.

Most patients with the illness display a mixed composition of mutated mitochondrial DNA and unaffected mitochondrial DNA, a state known as heteroplasmy. Generally, the concentration of mutated DNA must reach a certain threshold before symptoms appear; the study revealed that this threshold varied depending on which mutation was present. 

Check out the original study in Annals of Neurology.

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