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Published on: December 6, 2016
The promise of translational and personalised approaches for paediatric obstructive sleep apnoea: an 'Omics'
Hui-Leng Tan1, Leila Kheirandish-Gozal, David Gozal
1Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, , London, UK.
Insights
Obstructive sleep apnoea (OSA) causes widespread harm through inflammation and oxidative stress. Advanced
Area of Science:
- Sleep Medicine
- Genetics
- Molecular Biology
Background:
- Obstructive sleep apnoea (OSA) is linked to cardiovascular, metabolic, and neurocognitive issues.
- Pathophysiological mechanisms of OSA and its varied clinical presentations remain unclear.
- Inflammatory cascades and oxidative stress are suspected mediators of OSA-related damage.
Purpose of the Study:
- To review recent advances in understanding genotype-phenotype interactions in OSA.
- To explore the role of epigenetics, genomics, and proteomics in OSA.
- To highlight how 'Omics' approaches can advance personalized diagnosis and management of OSA.
Main Methods:
- Review of current literature on OSA genetics and molecular mechanisms.
- Synthesis of findings on genotype-phenotype correlations.
- Discussion of 'Omics' technologies (genomics, proteomics, epigenetics) in sleep medicine.
Main Results:
- Emerging evidence links specific genetic profiles to OSA phenotypes and end-organ damage.
- Epigenetic modifications may influence OSA susceptibility and severity.
- 'Omics' data provide a deeper understanding of OSA's molecular underpinnings.
Conclusions:
- 'Omics' technologies offer transformative potential for OSA research and clinical practice.
- Understanding genetic and molecular factors is crucial for personalized OSA management.
- Further research into genotype-phenotype interactions will elucidate OSA's complex pathophysiology.
Abstract:
Obstructive sleep apnoea (OSA) can result in significant morbidities including the cardiovascular, metabolic and neurocognitive systems. These effects are purportedly mediated via activation of inflammatory cascades and the induction of oxidative stress, ultimately resulting in cellular injury and dysfunction. While great advances have been made in sleep medicine research in the past decades, there are still wide gaps in our knowledge concerning the exact underlying pathophysiological mechanisms of OSA and consequences. Without resolving these issues, the reasons why patients with a similar severity of OSA can have markedly different clinical presentation and end-organ morbidity, that is, phenotype, will continue to remain elusive. This review aims to highlight the recent exciting discoveries in genotype-phenotype interactions, epigenetics, genomics and proteomics related to OSA. Just as PCR revolutionised the field of genetics, the potential power of 'Omics' promises to transform the field of sleep medicine, and provide critical insights into the downstream pathological cascades inherent to OSA, thereby enabling personalised diagnosis and management for this highly prevalent sleep disorder.
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