New research finds genetic path to regulate sleep, chance for new treatments

Researchers from Texas A&M University, the Perelman School of Medicine at the University of Pennsylvania, and Children's Hospital of Philadelphia have found a genetic pathway that influences sleep in animals and humans.

According to a report by Texas A&M Today, the collaborative effort, which was funded by the National Institutes of Health, could shed new light on the understanding of sleep-related disorders and opens the door to new treatments for insomnia. The findings were published in Science Advances, which highlighted the importance of validating human genomics findings through animal models and demonstrates the potential of using the model pipeline for studying other traits and diseases. 

“There have been enormous amounts of effort to use human genomic studies to find sleep genes,” Texas A&M geneticist and evolutionary biologist Alex Keene said in the report. “Some studies have hundreds of thousands of individuals. But validation and testing in animal models is critical to understanding function. We have achieved this here, largely because we each bring a different area of expertise that allowed for this collaboration’s ultimate effectiveness.”

Keene's team included Allan Pack and Philip Gehrman of the University of Pennsylvania, as well as Struan Grant from the Children's Hospital of Philadelphia. The researchers used a method called "variant-to-gene mapping" to predict which genes would be affected by genetic variants associated with sleep in humans. To validate those findings, they screened the impact of these genes in fruit flies, Texas A&M reported.

The study revealed that mutations in the Pig-Q gene, responsible for the biosynthesis of a protein modifier, led to increased sleep in both fruit flies and zebrafish, a vertebrate model. "Consequently, Pig-Q was identified as a gene associated with sleep regulation in humans, fruit flies, and zebrafish," the report read. The team also plans to use the same method to  assess other traits commonly studied using human genome-wide association studies, Texas A&M reported.

Philip Gehrman, a clinical psychologist and associate professor of clinical psychology in psychiatry at the Perelman School of Medicine, said further testing could lead to the discovery of more genes associated with sleep, as well as more treatments. 

By studying fruit flies and Mexican cavefish, Keene aims to uncover the "genetic basis of behavioral choices that contribute to human diseases" including obesity, diabetes, and heart disease, Texas A&M reported.