New Discovery Adds Greater Complexity to the Genetic Basis of Mitochondrial Disease

According to a story from, a recent study has reshaped the scientific understanding of the origins of mitochondrial disease. For decades any mutation that affected the mitochondrial DNA and caused certain symptoms was considered mitochondrial disease. The latest discovery has found that mutations impacting ATP synthase are actually much more varied. 

About Mitochondrial Disease

Mitochondrial diseases are 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 diseases are 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 diseases, click here.

About The Study

The new findings indicate that more detailed and precise testing methods will be necessary in order to determine the treatment approach for a patient that is affected by mitochondrial disease. A unique characteristic of the mitochondria is that they contain their own DNA which encodes for 37 genes that are distinct from the normal DNA, which is housed in the cell’s nucleus.

The researchers focused on 200 cases of mitochondrial disease that were linked to mutations affecting the MT-ATP6 gene. The original goal was gather more information about the presentation of mitochondrial disease linked to the mutation and understand the variants more clearly, but the scientists found that there was far more variation than they expected. Not only did patient’s have varied symptoms, but the biochemistry of their cells and tissues also varied drastically. Therefore it was impossible to make determinations in regards to treatment.

The researchers found 34 different variants and there was not single biochemical characteristic that was universal to all of the patients. These findings highlight the need for continued study of the MT-ATP6 mutation and other forms of mitochondrial disease as well.

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