Scientists make progress in decoding the genetics of insomnia

Alex Keene, a geneticist and evolutionary biologist at Texas A&M University, teamed up with Allan Pack and Philip Gehrman of the University of Pennsylvania and Struan Grant of the Children’s Hospital of Philadelphia (CHOP) to conduct a research project that was funded by the National Institutes of Health. This study was aimed at discovering a new genetic pathway that is involved in regulating sleep in humans and other species, such as fruit flies. Through their combined expertise, they made a great breakthrough and published their findings in Science Advances. Their research has the potential to lead to new treatments for insomnia and other sleep-related disorders.

According to Keene, the most remarkable aspect of the team's work is that they used human genomics data to create a pipeline to explore the genetic basis of sleep. He said, "We have a great abundance of human genome-wide association studies (GWAS), which identify genetic variants that may be associated with sleep. But validating them has been quite a challenge. Our team employed a genomics process known as variant-to-gene mapping to predict the genes affected by these variants, followed by testing the effects of these genes in fruit flies. We found that mutations in the gene Pig-Q, which is essential for the synthesis of a protein modifier, increased sleep. We then verified this effect in a vertebrate model, namely zebrafish, to confirm that Pig-Q is associated with sleep regulation in both humans and animals,".

Keene states that the team's next step is to examine the role of GPI-anchor biosynthesis, a common protein modification, in regulating sleep. Furthermore, he mentions that the human-to-fruit flies-to-zebrafish pipeline they have developed can grant them assess to the functions of not only sleep genes but also other traits which are commonly examined using human GWAS, such as neurodegeneration, aging, and memory. Gehrman, an associate professor of clinical psychology in psychiatry at Penn and a clinical psychologist with the Penn Chronobiology and Sleep Institute, added that by understanding how genes affect sleep and the role of this pathway in sleep regulation, the scientists can potentially uncover new treatments for sleep disorders like insomnia.

References:

Hutchins, S. K. (2023, January 11). Scientists make progress in decoding genetics of insomnia: Using a predictive genomics approach called variant-to-gene mapping, Texas A&M biologist Alex Keene and colleagues prove the gene Pig-Q is associated with sleep regulation in humans, flies ... ScienceDaily. Retrieved January 11, 2023, from https://www.sciencedaily.com/releases/2023/01/230110191412.htm

Justin Palermo et al. Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep. Science Advances, 2023 DOI: 10.1126/sciadv.abq0844