What are biomarkers and why do they matter in mitochondrial disease?

Biomarkers are measurable signals in the body, found in things like blood or tissue, that help us understand how a disease is behaving or responding to treatment.

They’re a bit like the warning lights and gauges on a car dashboard. These don’t just tell you something’s wrong, they help track changes over time. In mitochondrial disease, where many different organs can be affected, this kind of insight is crucial.

Finding biomarkers is a key goal of the LifeArc Centre for Rare Mitochondrial Diseases. Researchers are trying to identify and develop a portfolio of clinically relevant, organ-specific, non-invasive biomarkers for the muscles, heart, brain and eyes.

These biomarkers can help detect mitochondrial disease earlier, monitor how it progresses and assess whether treatments are working, ultimately helping to improve care for people living with these rare conditions.

Find out more in our video explainer below.