A groundbreaking study identifying biological markers for schizophrenia could soon revolutionize how the disorder is diagnosed and treated in the Commonwealth and beyond.
Researchers have discovered that two specific markers — Sp4 mRNA and the HSP60 protein — can be collected through a 60-second cheek swab to help identify patients with schizophrenia and predict symptom severity. This discovery, published in the journal “Science Advances,” was led by Bonnie L. Firestein, PhD, chair and professor of the UK College of Medicine Department of Pharmacology and Nutritional Sciences. Dr. Firestein conducted the research while at Rutgers University alongside collaborators from Rutgers, Michigan State University, and the University of Rochester.
“We’ve come up with an easy-to-collect, non-invasive way to identify biomarkers for potential diagnosis and prognosis of schizophrenia,” Dr. Firestein said.
Schizophrenia is notoriously difficult to diagnose because current criteria rely almost entirely on behavioral observations rather than molecular findings. For many families, the diagnostic process is often subjective and slow.
“Right now, diagnosis is somewhat subjective. There are objective measures, but schizophrenia falls on a disorder spectrum,” Dr. Firestein said. “The more research we do in this area, the better we'll be able to home in on exactly what type of disorder patients have, and also what the underlying mechanism is.”
This is particularly vital for adolescent males, who are most commonly diagnosed with the disorder. Symptoms, like losing interest in hobbies or a flat affect, can often be mistaken for depression, which requires a completely different treatment plan. This test offers a potential way to distinguish schizophrenia from other disorders much earlier.
The impact on Kentucky patients centers on personalized medicine. Currently, psychiatric medications are often prescribed in a "trial-and-error" fashion that can take up to a year to refine.
“You could have schizophrenia, I could have schizophrenia, but the genes that are contributing to your schizophrenia could be different than mine,” Dr. Firestein explained. “That means that you should actually be on different medication than I should be.”
By identifying these biomarkers, clinicians can determine which drugs may be effective for specific patients sooner than waiting for further behavioral symptoms to develop. There is also hope that these tests could eventually predict if a patient’s condition will worsen after a first psychotic episode.
The University of Kentucky is now licensing this technology, ensuring that future research and clinical expansion will continue in Lexington. This ongoing work also provides vital training for the next generation of scientists; the initial study included two PhD students and two undergraduate researchers.
By replacing invasive blood draws with a simple cheek swab, this research aims to make health care more accessible and effective for families in Kentucky and across the globe.
Research reported in this publication was supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number T32GM13541. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.