Researchers Discover A Gene Mutation Associated With Sleep Regulation, Which May Pave The Way For New Sleep Disorder Treatments
Sleep disorders are extremely common, affecting up to 70 million Americans every single year, according to the Cleveland Clinic.
Between 33% and 50% of the adult population also experience insomnia symptoms– which can include difficulty falling asleep, difficulty returning to sleep, fatigue, irritability, depressed mood, and concentration problems.
So, there have been immense research efforts to find sleep genes within the human genome in hopes of further understanding these disruptions. What many of these studies lacked, though, was validation and testing among animal models.
That was until just recently, when researchers from Texas A&M University, the University of Pennsylvania, and the Children’s Hospital of Philadephia (CHOP) conducted a collaborative study aimed at identifying a new genetic pathway that is involved in sleep regulation.
And unlike previous studies, this new research– which was published in Science Advances– was able to receive validation and animal model testing.
“We have achieved this here because we each bring a different area of expertise that allowed for this collaboration’s ultimate effectiveness,” explained Alex Keen, a geneticist and evolutionary biologist from Texas A&M.
Remarkably, the team’s work did not begin with a model organism, either. Instead, the researchers developed a pipeline that started with human genomics data.
And while there are countless human genome-wide association studies (GWAS) that have identified genetic variants associated with human sleep, the researchers were able to finally surpass one of the greatest challenges of this research area– validation.
“Our team used a genomics approach called variant-to-gene mapping to predict the genes impacted by each genetic variant,” Keen detailed.
Drobot Dean – stock.adobe.com – illustrative purposes only, not the actual person
Afterward, the researchers screened the effects of these genes in both fruit flies and zebrafish.
They ultimately found that mutations in one gene known as Pig-Q– which is necessary for the biosynthesis of a protein function modifier– actually increased sleep.
“Therefore, in humans, flies, and zebrafish, Pig-Q is associated with sleep regulation,” Keene revealed.
Now, the researchers’ next step is to analyze how GPI-anchor biosynthesis– a common protein modification– impacts sleep regulation. Plus, the team’s human-to-fruit flies and zebrafish research pipeline will also allow them to assess other traits such as aging, neurodegeneration, and memory.
In terms of sleep, though, Keene reiterated how understanding the role of genes in sleep regulation can pave the way for novel treatments for both insomnia and other sleep disorders.
“Moving forward, we will continue to use and study this system to identify more genes regulating sleep, which could point in the direction of new treatments for sleep disorders,” he said.
To read the study’s complete findings, visit the link here.
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