A recent study conducted at Cincinnati Children’s Hospital Medical Center has shed light on the profound effects of Obstructive Sleep Apnea (OSA) on gene activity. The research, utilizing a mouse model exposed to intermittent low blood oxygen levels, identified significant transcriptional changes primarily in lung genes. These findings offer valuable insights into the potential organ damage experienced by individuals with OSA and may facilitate the identification of diagnostic and therapeutic targets.
The disruption of gene activity throughout the day is a key consequence of the reduced blood oxygen levels associated with OSA, as revealed by a new study published in the open-access journal PLOS Biology. Led by David Smith and his colleagues at Cincinnati Children’s Hospital Medical Center, the research could pave the way for early detection tools and continuous monitoring of this disorder.
OSA occurs when the airway becomes obstructed, often due to soft tissue, leading to snoring and interrupted breathing during sleep. This results in intermittent hypoxia, characterized by low blood oxygen levels and disrupted sleep patterns. With over one billion people worldwide affected by OSA and direct medical costs amounting to $150 billion annually in the United States alone, it poses significant risks to cardiovascular, respiratory, metabolic, and neurologic health.
Naturally, the activity of many genes varies throughout the day, influenced in part by circadian clock genes responsible for regulating approximately half of the genome through their regular oscillations. External factors, including decreased oxygen levels, also impact gene activity by triggering the production of “hypoxia-inducible factors” that influence numerous genes, including clock genes. To gain a deeper understanding of how OSA affects gene activity throughout the day, the researchers exposed mice to intermittent hypoxic conditions and analyzed whole-genome transcription in six different tissues: lung, liver, kidney, muscle, heart, and cerebellum. Additionally, they examined the variation in circadian timing of gene expression within these tissues.
The most significant changes in gene activity were observed in the lung, where intermittent hypoxia affected the transcription of nearly 16% of all genes, predominantly leading to upregulation. The heart, liver, and cerebellum exhibited alterations in approximately 5% of genes. Notably, genes that normally display circadian rhythmicity were even more strongly affected by intermittent hypoxia, with significant changes observed in 74% of such genes in the lung and 66.9% in the heart. Among the affected genes in each tissue were the well-known clock genes, suggesting their contribution to the substantial alterations in the circadian activity of other genes within these tissues.
David Smith emphasized the significance of these findings, stating, “Our discoveries provide novel insights into the underlying mechanisms that may contribute to organ damage in patients with chronic exposure to intermittent hypoxia. They may also serve as valuable targets for future studies investigating diagnostic or therapeutic approaches.” For instance, a blood test tracking one of the dysregulated gene products could potentially detect early signs of OSA.
Bala S. C. Koritala further adds, “Our study, utilizing an animal model of Obstructive Sleep Apnea, unravels tissue-specific and time-dependent variations in the entire transcriptome, along with associated hallmark pathways. These unique findings reveal early biological changes linked to this disorder across multiple organ systems.”
Reference:
Koritala, B. S. C., Lee, Y. Y., Gaspar, L. S., Bhadri, S. S., Su, W., Wu, G., Francey, L. J., Ruben, M. D., Gong, M. C., Hogenesch, J. B., & Smith, D. F. (2023). Obstructive sleep apnea in a mouse model is associated with tissue-specific transcriptomic changes in circadian rhythmicity and mean 24-hour gene expression. PLOS Biology, 10.1371/journal.pbio.3002139.
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Frequently Asked Questions (FAQs) about obstructive sleep apnea
What is obstructive sleep apnea (OSA)?
Obstructive Sleep Apnea (OSA) is a sleep disorder characterized by the blockage of the airway, resulting in interrupted breathing during sleep and low blood oxygen levels. It is often associated with snoring and can lead to various health complications.
How does obstructive sleep apnea affect gene activity?
Obstructive Sleep Apnea disrupts gene activity throughout the day, primarily due to intermittent low blood oxygen levels. This disruption can lead to significant changes in gene expression, particularly in lung genes. Additionally, genes involved in circadian rhythms are strongly affected by intermittent hypoxia associated with OSA.
What are the potential consequences of obstructive sleep apnea?
Obstructive Sleep Apnea poses various risks to health, including cardiovascular, respiratory, metabolic, and neurologic complications. Chronic exposure to intermittent hypoxia, a characteristic of OSA, can contribute to organ damage in affected individuals.
Can obstructive sleep apnea be diagnosed through gene activity analysis?
While gene activity analysis provides valuable insights into the effects of obstructive sleep apnea, it is not currently used as a primary diagnostic method. However, studying dysregulated gene products may help in the development of future diagnostic approaches, such as blood tests, for early detection of OSA.
How can the findings of this study benefit obstructive sleep apnea patients?
The findings of this study contribute to a better understanding of the mechanisms underlying OSA-related organ damage. They also offer potential targets for future research in diagnostics and therapeutics, which could aid in earlier detection, monitoring, and management of the disorder.
More about obstructive sleep apnea
- Cincinnati Children’s Hospital Medical Center: Website
- PLOS Biology: Research Article
4 comments
omg i love genetics and this study is like right up my alley! it’s fascinating how low oxygen levels can mess with gene activity and cause all these changes. imagine if they could develop a blood test to detect sleep apnea early, that would be so awesome! more power to the researchers!
zzzz… huh? oh, sleep apnea and genes, right. it’s interesting how our body clocks and genes are all connected. maybe if they figure out how to fix the genes, we won’t need to count sheep anymore, haha! but seriously, good on the scientists for unraveling this genetic mystery.
whoa, so sleep apnea can mess with our genes? that’s scary stuff, man. i’ve been struggling with sleep problems for years, and now i’m worried about what it’s doing to my body on a genetic level. this study really opened my eyes. i hope they find some breakthroughs soon to help people like me.
wow this article is so cool i had no idea sleep apnea could mess with genes and stuff lol. it’s crazy how our bodies work and how sleep problems can cause all these health issues. they should def do more research on this and find ways to help people with sleep apnea!