The following is a brief report on a study done by one of our Medical Advisory Board members, among others: René de Coo.

In a collaborative effort between the Department of Ophthalmology at Maastricht University Hospital and the Neuromuscular and Mitochondrial Diseases (NeMO) expertise center at Maastricht University (MUMC+), biomarkers for mitochondrial diseases are being sought.

What are biomarkers? Can they be of use for mitochondrial diseases? Are they important for ADOA?

Biomarkers are biological markers, or pointers. A comparison: if you want to know if you have enough gasoline in the tank of your car, you look to see if the gauge is green, then the tank is sufficiently full; if it is orange, you need to find a gas station, and red warns that you will come to a stop (or you are already at a stop).


A biomarker for a mitochondrial disease should, in the ideal situation, be able to tell you whether or not you have a condition and, preferably, whether you have it mildly, moderately or severely.

From the patient’s point of view, you may wonder what you gain from that. A biomarker won’t make you better. As a researcher, however, you are working to develop a therapy for a condition. To know if a possible therapy works, you need a sensitive measurement scale. Sometimes it is not clear whether what you are trying is having the desired effect. Ideally, such a biomarker can indicate whether you are pushing the meter toward the green part or toward the red part of the measurement scale. Preferably, you signal this before the patient does.

In short, the biomarker can be very useful in accelerating the development process of a drug or other form of therapy.

The interest in biomarkers has recently increased because from some substancesin the blood can be determined in the bloord, it has been discovered that they can act as biomarkers in people with muscle energy disorders.

For ADOA, LHON and also for a disorder like glaucoma, where possibly mitochondria also play a role in the disease process, we do not (yet) know these biomarkers.

With advanced research we try to search in blood for biomarkers that are both easy to determine and give us clear information.

In ADOA a biomarker could help to test and follow medications more easily for their positive but also negative effects on the expression and course of the disease.

In the next two years we hope to make progress in this area.

René de Coo,
Coordinator Expertise Center NeMO for Neuromuscular and Mitochondrial Diseases, Maastricht University

Would you like to donate so that we can collect money for research?
That’s possible!

You can do so by transferring an amount to our account number:
NL80ABNA0833674641 in the name of Cure ADOA Foundation.

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