As we know all too well, mitochondrial disease is a bit of a mystery. We don’t yet fully understand why it presents differently and progresses differently in individuals, nor do we know how to best treat and ultimately cure it. However we believe that biomarkers could hold the key to better understanding of this rare disease.
What’s a biomarker?
Put simply, a biomarker, or ‘biological marker’, is a measurable characteristic of the body that changes when our health changes. It could be something like blood pressure, heart rate or body mass index. It’s something that’s easy to measure, is objective and doesn’t define how a person feels or functions.
Here’s a great example of a very commonly used biomarker – body temperature. Our body temperature can very easily be accurately measured, and is used to establish normal health. Changes in our temperature can tell us if we have an infection, and can also be used to measure the effectiveness of a medication such as paracetamol, which reduces temperature.
Why are biomarkers so important?
The importance of having good biomarkers is widely recognised in clinical trials. Good biomarkers provide a fast and reliable readout of disease activity to more rapidly assess whether a drug is having a beneficial effect or not. These biological markers can also be hugely valuable in a clinical setting as they categorise individuals more accurately according to the level of disease, and can speed up treatment or trial enrolment through earlier and more inclusive diagnosis.
With a disease like cancer, for example, tumour size is a good universal biomarker that can be used to evaluate the progression of the disease across a range of cancer diagnoses. The problem with mito is that we don’t yet fully understand the biological changes that are common to different groups of mitochondrial diseases, so we don’t yet have universally reliable biomarkers that we can use to assess disease status.
The clues are all there, but we need to invest time and money to uncover them. Unlocking the door and discovering these hidden mito biomarkers will, without doubt, transform the treatment landscape and clinical care of patients in the future.
And that’s why The Lily Foundation are investing in a comprehensive review of the scientific literature on biomarkers which will help us identify the gaps in understanding so we can focus on funding research that will have the biggest impact in the future.
If you would like to give hope to everyone affected by mitochondrial disease, please make a donation and help us to continue our good work.