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PubMed2025

The importance of dopamine levels and single-nucleotide polymorphism within COMT, DRD1 and DRD2 genes in obstructive sleep apnoea.

BACKGROUND: Obstructive sleep apnoea (OSA) is a prevalent sleep disorder that contributes to serious cardiovascular comorbidities. While the mechanical aspects of OSA are well-studied, its neurobiological underpinnings remain underexplored. In this study, we investigated the role of dopamine and its genetic modulators in OSA pathophysiology. PATIENTS AND METHODS: Serum dopamine levels were assessed in a cohort of 153 participants (96 OSA patients and 57 controls), and single-nucleotide polymorphisms (SNPs) in dopamine-related genes, including COMT, DRD1 and DRD2, were analysed in a cohort of 286 participants (141 OSA patients and 145 controls). RESULTS: Elevated serum dopamine levels were observed in OSA patients (p = 0.01), with dopamine levels correlating independently with OSA and male gender. Genotypic analysis identified the DRD2 rs1800497 T allele as a potential independent predictor of OSA severity (p = 0.011), hypopnea (p = 0.005) and arousals (p = 0.024). CONCLUSIONS: This study advances the understanding of OSA by identifying elevated dopamine levels and genetic variations in DRD2 rs1800497 as potential modulators of its occurrence and severity. These findings pave the way for personalized diagnostic and therapeutic approaches. By integrating neurobiology, genetics, and clinical practice, this research contributes to the evolving framework for precision medicine in sleep disorders.

Humans↗
PubMed2026

Omics Profiling of Patients with Obstructive Sleep Apnoea Reveals Risks of Diabetes Mellitus and Cardiovascular Diseases.

Obstructive sleep apnoea (OSA) constitutes a multisystemic disorder often associated with cardiovascular and metabolic disorders. Thus, far, the underlying pathophysiological processes are not fully understood. In total, 142 plasma samples were acquired: 50 from controls (CON), 45 from mild/moderate OSA (M-OSA) patients, and 47 from severe OSA (S-OSA) patients. Proteomic and metabolic signatures significantly differed among S-OSA, M-OSA, and CON samples. A novel plasma biomarker panel including two proteins (ACTR2 and ENO1) and three metabolites (2-aminobicyclo[2 2·1], heptane-2-carboxylic acid, 1-O-[2r-hydroxy-hexadecyl]-sn-glycerol, and 1-pentadecene) was developed to identify S-OSA (AUC: 1.000) and distinguish severe cases from nonsevere cases (AUC: 0.813). An independent cohort was used to validate the model by distinguishing S-OSA samples from M-OSA (AUC: 0.729) and CON (AUC: 0.990) samples. Glycolysis pathway activation was identified as a characteristic of OSA; it may contribute to diabetes mellitus onset in OSA patients. Dyslipidaemia, foamy macrophage formation, platelet activation, and actin cytoskeleton might collectively play a key role in vascular damage in OSA patients, contributing to the development of atherosclerosis. These findings reveal molecular bases for OSA-related cardiometabolic complications and provide new diagnostic biomarkers for OSA and the identification of severe cases.

Humans↗
PubMed2025

Polygenic scores for obstructive sleep apnoea reveal pathways contributing to cardiovascular disease.

BACKGROUND: Obstructive sleep apnoea (OSA) is a common chronic condition, with obesity its strongest risk factor. Polygenic scores (PGSs) summarise the genetic liability to phenotype and can provide insights into relationships between phenotypes. Recently, large datasets that include genetic data and OSA status became available, providing an opportunity to utilise PGS approaches to study the genetic relationship between OSA and other phenotypes, while differentiating OSA-specific from obesity-specific genetic factors. METHODS: Using race/ethnic diverse samples from over 1.2 million individuals from the Million Veteran Program, FinnGen, TOPMed, All of Us (AoU), Geisinger's MyCode, MGB Biobank, and the Human Phenotype Project, we developed and assessed PGSs for OSA, both without (BMIunadjOSA-PGS) and with adjustment for the genetic contributions of BMI (BMIadjOSA-PGS). FINDINGS: Adjusted odds ratios (ORs) for OSA per 1 standard deviation of the PGSs ranged from 1.38 to 2.75. The associations of BMIadjOSA- and BMIunadjOSA-PGSs with CVD outcomes in AoU shared both common and distinct patterns. Only BMIunadjOSA-PGS was associated with type 2 diabetes, heart failure, and coronary artery disease, while both BMIadjOSA- and BMIunadjOSA-PGSs were associated with hypertension and stroke. Sex stratified analyses revealed that BMIadjOSA-PGS association with hypertension was driven by females (OR = 1.1, p-value = 0.002, OR = 1.01 p-value = 0.2 in males). OSA PGSs were also associated with body fat measures with some sex-specific associations. INTERPRETATION: Distinct components of OSA genetic risk are related and independent of obesity. Sex-specific associations with body fat distribution measures may explain differing OSA risks and associations with cardiometabolic morbidities between sexes. FUNDING: R01AG080598.

Humans↗
PubMed2026

Acetazolamide to prevent ventilatory drive withdrawal in REM sleep apnoea: a randomised controlled trial.

BACKGROUND: Obstructive sleep apnoea (OSA) pathogenesis during rapid-eye movement (REM) sleep has been linked to dips in ventilatory drive and downstream genioglossus hypotonia. The carbonic anhydrase inhibitor acetazolamide is known to increase ventilatory drive and improve OSA severity. Therefore, we tested the effect of acetazolamide on REM-predominant OSA severity (apnoea hypopnoea index (AHI) and hypoxic burden, co-primary outcomes) and underlying physiological mechanisms (ventilatory drive, ventilation and pharyngeal muscle activity). METHODS: 11 participants with REM-predominant OSA per baseline polysomnography (REM AHI/non-REM AHI&#x2265;2) were allocated to receiving acetazolamide 500&#x2009;mg for three nights (first night at half dose) or placebo according to a randomised, crossover, double-blind design. Detailed physiological polysomnography with recording of diaphragm and genioglossus electromyography was conducted after each intervention, with a 1-week washout in between. RESULTS: As hypothesised, acetazolamide reduced AHI by 35.5% (95% CI 23.1% to 46.3%) and hypoxic burden by 35.9% (95% CI 21.1% to 48.4%) vs placebo (p<0.001), meeting the primary endpoint. Mechanistic analysis in REM revealed that, unexpectedly, acetazolamide did not mitigate dips in ventilatory drive versus placebo (first decile (+0.1 (-1.0 to 1.3) L/min, p=0.8). Rather, acetazolamide reduced collapsibility (increased ventilation at eupneic drive: +1.4 (1.2 to 1.8) L/min) and raised muscle responsiveness (ventilation vs drive slope: +32 (25 to 41) %ventilation/drive, p<0.001; genioglossus versus drive slope: +0.33 (0.13 to 0.54) %max/(L/min), p=0.001). CONCLUSIONS: Acetazolamide modestly improved REM OSA, with meaningful improvements in upper airway physiology, but failed to mitigate the dips in ventilatory drive responsible for REM OSA. TRIAL REGISTRATION NUMBER: NCT05589792.

Humans↗
PubMed1978

Partial upper airway obstruction and sleep apnoea.

An unusual case is described in which partial upper airway obstruction led to a sequence of events characterized by sleep disturbance, enuresis, somnolence and cardio-respiratory collapse. The upper airway obstruction was not immediately apparent as the cause of subsequent clinical events. Attention is drawn to the general medical problems which may be produced by upper airway obstruction, with particular reference to those accompanying obesity and abnormal stature.

Achondroplasia↗
PubMed2026

Clinical insights into catathrenia: A real-world analysis from a tertiary sleep center.

INTRODUCTION: Catathrenia is a rare sleep-related breathing disorder marked by groaning during prolonged expiration, often underrecognized or misdiagnosed as obstructive or central sleep apnoea (OSA or CSA) or parasomnia. Understanding its clinical and polysomnographic features is essential for accurate diagnosis and management. MATERIALS AND METHODS: We performed a retrospective observational study of adult patients diagnosed with catathrenia at Servi&#xe7;o de Medicina do Sono de Coimbra. Diagnosis was established by attended overnight polysomnography (PSG) with synchronised audio-video recording. Demographic data, symptoms, comorbidities, PSG variables, treatment modalities, and outcomes were reviewed. Catathrenia events were defined as deep inhalation followed by prolonged exhalation with monotonous groaning. RESULTS: Ten patients were included. Median age was 46&#x2009;years (range 27-78), mostly female (70%). Common comorbidities included obesity (n&#x2009;=&#x2009;4), depression (n&#x2009;=&#x2009;2), Parkinson's disease (n&#x2009;=&#x2009;1), and restless legs syndrome (n&#x2009;=&#x2009;1). Six patients (60%) had concomitant obstructive sleep apnoea (OSA). Seven patients had excessive daytime sleepiness (Epworth Sleepiness Scale&#x2009;>&#x2009;10). All catathrenia episodes occurred exclusively during REM sleep. Continuous positive airway pressure (CPAP) therapy was the most frequently used treatment and was associated with objective or subjective improvement in most patients. Two patients experienced spontaneous remission. CONCLUSION: Catathrenia remains underdiagnosed and can mimic other sleep disorders. Recognition of its REM-sleep predominance and PSG pattern is essential. Individualised treatment, often involving PAP therapy, may improve symptoms and patient outcomes.

Humans↗
PubMed2026

High-flow nasal cannula oxygenation in sedated endoscopy for high-risk obstructive sleep apnea patients: study protocol for a multicentre randomised controlled trial.

BACKGROUND: Hypoxemia is the most common adverse event during sedated gastrointestinal endoscopy. Patients with high obstructive sleep apnea (OSA) risk (STOP-Bang &#x2265;5) are susceptible due to sedation-induced loss of upper airway tone exacerbating airway collapsibility. Although high-flow nasal cannula (HFNC) benefits general at-risk populations, its efficacy in this specific cohort remains uncertain, as its mild positive pressure falls far below therapeutic continuous positive airway pressure levels for moderate-to-severe OSA, questioning its ability to stent the collapsible airway. Our prior proof-of-concept study in this cohort observed a 5% incidence of hypoxemia with HFNC, confirming feasibility and safety and justifying this confirmatory trial. METHODS: This prospective, multicenter, randomized controlled single-blind trial will enroll 600 adults (STOP-Bang score &#x2265;5) undergoing elective sedated gastroenteroscopy across three centers. Participants will be 1:1 randomized (stratified by center) to HFNC (30&#x2009;L/min pre-oxygenation, 60&#x2009;L/min post-induction) or conventional nasal cannula (6&#x2009;L/min). Both groups receive standardized propofol-alfentanil sedation. The primary outcome is the proportion of patients with at least one episode of hypoxemia (SpO2 75%-90% <60&#x2009;s). Secondary outcomes include the proportion of patients with at least one episode of severe hypoxemia (SpO2 <75% or 75%&#x2264;SpO2<90% &#x2265;60&#x2009;s), the proportion with subclinical respiratory depression (90%&#x2264;SpO2<95%), and the frequency of other adverse events. DISCUSSION: This trial will provide definitive evidence on HFNC's efficacy in high-risk OSA patients, addressing whether it can overcome pressure limitations to prevent hypoxemia. Results are expected to inform sedation management guidelines, establish a new standard of care for this subgroup, and enhance procedural safety. TRIAL REGISTRATION: The trial was registered at the ClinicalTrials.gov on 14 December 2025 (NCT07307560).

Humans↗
PubMed1979

A common pathophysiology for sudden cot death and sleep apnoea. "The vacuum-glossoptosis syndrome".

Several congenital and acquired conditions, characterized by upper airway narrowing, may result in respiratory, cardiac, and sleep disturbances. In all these conditions the leading clinical feature is the occurrence of cyclic obstructive apnoea, mainly during sleep. The common pathogenic mechanism for the airway occlusion seems to be a backward displacement of the tongue and mandible, favoured by the muscle relaxation which occurs during sleep and by gravity in the supine position. A constant factor determining the glossoptosis is the pharyngeal vacuum occurring in these conditions as a result of inspiratory efforts in face of a narrowed upper airway. The response to this type of obstruction is age-dependent, since only in early infancy may these apnoeic spells be life-threatening. A similar pathophysiology is suggested for sudden cot death, which could be considered as a peculiar presentation of this "vacuum-glossoptosis syndrome". This hypothesis could explain why sudden cot death is often associated with nasopharyngitis and occurs always in infancy, almost invariably during sleep.

Adult↗
PubMed1976

Intemittent obstruction of the upper airway during sleep causing profound hypoxaemia. A neglected mechanism exacerbating chronic respiratory failure.

An obese patient with a ten year history of respiratory failure presented with insomnia and marked daytime somnolence. Respriatory failure had been attributed to obesity, respiratory centre insensitivity to carbon dioxide, and to diffuse airways obstruction. To investigate the possible role of episodic apnoea with frequent nocturnal arousals, continous recordings were obtained during sleep of arterial oxygen saturation, oesophageal pressure and the motions of the rib-cage and abdomen/diaphragm. Repeated episodes of hypoventilation and profound hypoxaemia were found which were due to intermittent obstruction of the upper airway rather than to cessation of breathing efforts. During the episodes of hypoxaemia, values of arterial O2 tension fell to as low as 24 mmHg. Episodic hypoxaemia was relieved but not abolished, by the use of a collar, designed to hold the mandible forward. Previous reports indicated that recognition of intermittent obstruction of the upper airway during sleep and treatment by a permanent tracheostomy, resulted in a significant long-term imporvement of pulmonary and cardiac function and relief of insomnia and day-time somnolence. When tracheostomy is inadvisable, as in the present patient, it is hoped that similar long-term benefits will result from a supportive collar.

Airway Obstruction↗
PubMed1977

Sleep apnoea syndrome: states of sleep and autonomic dysfunction.

Eleven patients with upper airway apnoea during sleep (one with SHY-Drager syndrome) were monitored polygraphically for wakefulness, sleep, and cardiovascular variables. Systemic hypertension and most of the severe arrhythmias recorded during sleep were secondary to repetitive obstructive apnonea and were mediated through the autonomic nervous system. Sleep related elevations of pulmonary arterial pressure were not influenced by atropine or impaired autonomic functions. Upper airway sleep apnoea is sleep related; the type of sleep (REM or NREM) is critical in the appearance of abnormalities. The distinction between two patient subgroups (total sleep dependent and NREM sleep dependent) has haemodynamic, and possibly long-term, implications. Sleep apnoea syndrome should be looked for in pateints with the Shy-Drager syndrome.

Adult↗