Early Riser? Maybe It's in Your Genes

Dr. Louis Ptáček, a neuroscientist at UCSF, presents a lecture on the genetic basis of circadian rhythms and sleep behavior. He explains that the circadian system is composed of a master clock in the brain and peripheral clocks in cells, all entrained by light and other cues. He describes the discovery of Familial Advanced Sleep Phase Syndrome (FASPS), a rare genetic condition causing people to sleep and wake extremely early. Through studying a large Utah family, his team identified mutations in the PER2 gene, a homolog of the Drosophila period gene, and later in the casein kinase 1 delta gene. These mutations affect the phosphorylation of the PER2 protein, altering the period of the circadian cycle. He discusses the molecular mechanisms of the clock, including transcription-translation feedback loops, and the importance of model organisms like fruit flies and mice. He also highlights the prevalence of FASPS (0.3-0.5% in Northern European populations) and the potential for developing drugs to reset the clock for jet lag and shift work. The lecture emphasizes the importance of basic research and the challenges of studying behavior.