New Gene Variant Linked to Short Sleep Duration Discovered

Scientists from the United States and China have identified a new human genetic variant associated with natural short sleep. This discovery, published in the journal *Proceedings of the National Academy of Sciences (PNAS)*, advances the understanding of sleep regulation. It may also offer potential therapeutic targets for improving sleep in the future. The research team, from the University of California San Francisco and the Chinese Academy of Sciences, identified a mutation within the SIK3 gene. Previous studies had linked four genes to this type of short sleep. The team used whole-exome sequencing to identify this new mutation. Laboratory experiments revealed that the mutation (N783Y) altered the structure of the SIK3 protein. This mutation hindered its ability to transfer phosphate molecules to other proteins, a process known to be involved in sleep regulation. "These findings expand our understanding of the genetic bases of sleep," the authors write. To confirm their findings, the researchers created mice carrying the N783Y mutation. The mutant mice slept an average of 30 minutes less each night compared to unaltered mice. Computer modeling indicated that the mutation causes structural changes that affect the protein's ability to transfer phosphate groups. The study suggests that SIK3 may play a fundamental role in the duration of human sleep. The scientists also highlight broader implications of kinase activity in sleep regulation across different species. They add that their findings "provide further support for potential therapeutic strategies to improve sleep efficiency."