Scientists Find Genetic Key to Chronic Fatigue Syndrome

Scientists in Perth have found what could be the missing piece in understanding chronic fatigue syndrome, a condition that leaves 60,000 Australians bedridden and dependent on full-time care.

The research team discovered that people with myalgic encephalomyelitis or Chronic Fatigue Syndrome (ME/CFS) have a genetic fault affecting how calcium enters their immune cells. Think of it like a broken doorway that stops fuel from reaching the cell's engine.

Griffith University researcher Natalie Eaton-Fitch says the team has been tracking these faulty TRPM3 ion channels since 2016. The latest study, published last week and involving 78 people including patients tested at the University of Western Australia, confirms their earlier findings across different groups.

"With this TRPM3 finding, we've looked at it in different cohorts, so we can say that this is a consistent finding across people with ME in Australia both genetically and functionally," Dr Eaton-Fitch said. The discovery could lead to the first blood test to diagnose the condition.

Even better news is coming. The research team is launching a clinical trial of low-dose naltrexone, a drug already approved in Australia that has shown potential to restore the faulty ion channels and improve symptoms in 75 percent of patients.

Amanda Canzurlo knows firsthand what this breakthrough could mean. The 40-year-old Perth singer was diagnosed at 16 after glandular fever left her bedridden for an entire school term.

"Even simple tasks like showering or going to the bathroom would send my body into overdrive and require a full day of rest to recover," she said. Her memory crashed, forcing her to retrain her brain through rote learning just to function.

Twenty-four years later, Canzurlo has learned to manage her condition through careful pacing, diet, and rest. She now performs full-time as a touring artist under the stage name Bloom, though she still experiences flare-ups.

The Ripple Effect

This research matters beyond the lab. One percent of Australians live with ME/CFS, and three-quarters of them are women. Most look healthy on the outside, making it an invisible disease that's often dismissed or misunderstood.

The researchers hope their large-scale clinical trial will provide enough evidence to get low-dose naltrexone listed on the Pharmaceutical Benefits Scheme. That would make treatment affordable and accessible instead of requiring expensive private prescriptions.

Canzurlo, now an ambassador for Emerge Australia, is using her upcoming tour with Seventh Wonder to raise $10,000 for ME/CFS research and support. She represents thousands of patients who never gave up hope that science would catch up to their suffering.

After decades without a diagnostic test or approved treatment, people with chronic fatigue syndrome finally have reason to believe their lives could change.