Researchers Identify a Genetic Variant Linked to Mitochondrial Disease

A research team led by scientists from Newcastle University believe that they may have identified a previously unknown genetic cause of childhood mitochondrial disease. For more information about this, you can read the source article here at the Newcastle University website, or view the original study at The American Journal of Human Genetics by clicking here.

About Mitochondrial Disease

Mitochondrial disease is a complex condition that affects the mitochondria, which are present in cells throughout the body and play an important role in supplying energy. Mitochondrial disease can cause some mitochondria not to work properly, and, as a result, certain parts of the body might not have the energy they need to function normally.

Since mitochondria are everywhere in the body, people with mitochondrial disease experience very different symptoms depending on which areas are most affected. Each person with mitochondrial disease will experience a unique set of symptoms, although there are sometimes broadly similar patterns. Some of the more frequently affected areas of the body include the brain, heart, muscle, liver, and kidneys, amongst others.

The Newly Identified Gene

Using a fast genetic testing method, the research team identified four children who all showed changes to NDUFA6, three of who are from the UK, and one who is from Germany. All of these children were shown to have a genetic variant that changed a protein involved in mitochondria.

Why This Type of Research is Important

The study lead, Dr Charlotte Alson, emphasised the importance of research into the underlying causes of conditions. She says that, often, it can be very challenging to definitively prove that a certain genetic variant causes a disease. However, making the link is important, because it helps scientists and doctors to understand what is causing a condition. It also helps doctors to carry out tests at an early stage of pregnancy that can tell families whether the variant has been passed on.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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