Unique cellular signature can accurately detect obstructive sleep apnea in children

Unique cellular signature can accurately detect obstructive sleep apnea in children

Researchers at the University of Missouri School of Medicine have discovered how obstructive sleep apnea (OSA) alters the profiles of immune cells in the blood, resulting in a unique cellular signature that can accurately detect obstructive sleep apnea in children.

OSA affects 22 million people in the United States, including children. More than 10% of children habitually snore, a hallmark symptom of possible OSA, but only one in four to five children who snore actually has sleep apnea. OSA in children is associated with a higher risk of cognitive, behavioral, metabolic, and cardiovascular complications in children. The gold standard for diagnosis is a sleep study called polysomnography (PSG), which monitors brain waves, blood oxygen levels, heart rate, breathing, eye and leg movements. However, researchers have found that a blood test can also provide an accurate method for diagnosing OSA.

Our research has found that OSA causes changes in the diversity of immune cells in the body that protect us from harmful viruses, bacteria and diseases. These changes result in a unique gene signature that can be used to diagnose OSA with extremely high precision.”

Rene Cortese, PhD, assistant professor, Department of Child Health and Division of Obstetrics, Gynecology and Women's Health

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Cortese's team collected cell samples from 11 children diagnosed with OSA by PSG and 11 other asymptomatic healthy children without OSA. Using a process called single-cell transcriptional profiling combined with traditional gene expression analysis, the team discovered that the OSA patients had a decrease in the percentage of T helper immune cells. These patients also showed increased levels of cMonocyte cells, a type of white blood cell, and higher numbers of atypical B cells, the producers of antibodies that fight bacteria and viruses.

“Based on these findings, we identified a molecular signature consisting of 32 genes that differentiate children with OSA from children without sleep apnea with high precision,” Cortese said. "We then tested this signature array in a different and much larger group of non-snoring and snoring children in whom gene expression was assessed using a less complex technology. Nevertheless, the signature was able to identify with greater than 95% accuracy which children had OSA present."

“This is a promising discovery that requires future validation to evaluate the performance of this gene signature and confirm the utility of this signature in the clinic,” Cortese said.

In addition to Cortese, the study's authors include MU colleagues Leila Kheirandish-Gozal, MD, director of the Child Health Research Institute; David Gozal, MD, the Marie M. and Harry L. Smith Endowed Chair in Child Health; Kylie Cataldo, research specialist; and Justin Hummel, Department of Data Science and Computer Science.

Source:

University of Missouri-Columbia

Reference:

Cortese, R., et al. (2022) Single-cell RNAseq reveals cellular heterogeneity and provides a signature for pediatric sleep apnea. European Respiratory Journal. doi.org/10.1183/13993003.01465-2022.

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