Biomarkers have been identified that indicate Chronic Fatigue Syndrome (CFS), and the team that discovered them are seeking partners for a commercial test. Eventually, this may be a step towards finding a cure, but shorter term benefits will be social, as people who have faced disbelief become able to prove they are truly sick.
“CFS, also known as myalgic encephalomyelitis (ME), affects up to 400,000 Australians,” said Professor Sonya Marshall-Gradisnik of Griffith University, Queensland, Australia, in a statement, “many of whom are housebound or bedbound. Patients are isolated and further stigmatized by disbelief of their condition.”
The physical and mental symptoms of CFS are so variable and non-specific that it is very hard to distinguish the condition from a range of other diseases. Moreover, the severity varies widely. “The perception in the community is that it is minor,” Griffith's Professor Don Staines told IFLScience. It is often difficult for sufferers to be recognized as sick by doctors, let alone welfare systems or peers.
“Over the last four years... we have identified unique markers in CFS patients,” Marshall-Gradisnik added in the statement. These markers affect the white blood cells that represent an important part of the immune system. Marshall-Gradisnik and Staines hope their findings will address the stigma of this condition, proving that people are genuinely sick and deserve support.
CFS can be identified through changes to white blood cells. Royaltystockphoto.com/Shutterstock
Another potential application for the test is as a measure of whether patients are improving or getting worse. This could greatly improve studies of treatments that currently rely on frequently vague self-assessments, but Staines told IFLScience that larger studies will be required to confirm if this is possible with the test as is, or if further refinement is required.
Meanwhile, the discovery of the biomarkers provides plenty of potential for researchers seeking targets for such treatments, although Staines told IFLScience that currently “we don't have funds to pursue the treatment side. We've generated a range of ideas, but not the funding.”
Matching biomarkers to a disease whose diagnosis is so difficult “took a lot of hard research” said Staines. The studies have been done almost entirely on Australian CFS patients, since the blood has to be analyzed within eight hours, and Staines said the result is a “screening test not a diagnostic test” as wider studies may find other forms of the disease.
Staines told IFLScience the biomarkers come from single nucleotide polymorphisms (SNPs), small genetic variations, affecting transient ion channel receptors. These SNPs predispose people to CFS. “In at least 70 to 80 percent of cases people have an infectious disease such as glandular fever which triggers a change in the expression of these SNPs,” Staines said. This induces both the symptoms – such as exhaustion, loss of memory and joint pain – and the Griffith team's biomarkers.
The work has been published in a series of peer-reviewed papers, including this year in the Scandinavian Journal of Immunology.
Asked how long it might take before a CFS test is available outside small study groups Staines told IFLScience, “It's out of our hands. We don't need more refinements, we need a partner.”