Regulatory Mechanisms of EGR2 and NLRP3 Inflammatory Pathways in Cognitive Impairment and Depressive-Anxiety-Like Behaviors Associated With Obstructive Sleep Apnea-Hypopnea Syndrome
Obstructive sleep apnea-hypopnea syndrome (OSAS) is a common disorder in which repeated airway blockages during sleep lead to low oxygen levels, inflammation, and disrupted sleep. Many OSAS patients-both children and adults-experience problems with memory, attention, and mood, such as anxiety or depression. However, the exact molecular drivers of these brain changes are not fully understood. This observational study will enroll: Children (ages 2-18) and adults (\>18 years) with OSAS, as well as age- and sex-matched healthy volunteers. Clinical assessments: Children will undergo routine ENT examinations (including nasal endoscopy and X-rays); adults will have an overnight sleep study (polysomnography). All participants will complete questionnaires on sleepiness (e.g., ESS), mood (PHQ-9, GAD-7), and cognitive screening (MoCA for adults, age-appropriate scales for children). Sample collection: A small blood draw (3 mL) and, when applicable (e.g., adults undergoing surgery), a tiny subcutaneous fat biopsy. Saliva samples will also be collected. Laboratory tests: Measure expression levels of two key inflammatory pathway genes-EGR2 and NLRP3-in blood cells, saliva, and fat tissue using RNA sequencing, RT-qPCR, and Western Blot. Correlate these molecular markers with sleep parameters (AHI, oximetry), cognitive scores, and mood scores. Data analysis: Develop and validate machine-learning models that integrate data from multiple tissues to predict who is at highest risk for cognitive or mood disturbances.
• Children aged 2-18 years with obstructive snoring or sleep apnea features on initial ENT outpatient screening.
• Adults (\>18 years) with suspected OSAS in a sleep or respiratory clinic, presenting with chronic snoring, witnessed apneas, or daytime sleepiness, and without severe chronic heart, liver, kidney failure, psychiatric disorders, or pregnancy.
• Signed written informed consent by the participant or their legal guardian. Not currently enrolled in any other registered clinical trial.