Circadian Rhythm Sleep Disorders: Genetics, Mechanisms, and Adverse Effects on Health

Nearly all living organisms, from cyanobacteria to humans, have an internal circadian oscillation with a periodicity of approximately 24 h. In mammals, circadian rhythms regulate diverse physiological processes including the body temperature, energy metabolism, immunity, hormone secretion, and daily sleep-wake cycle. Sleep is tightly regulated by circadian rhythms, whereas a misalignment between the circadian rhythms and external environment may lead to circadian rhythm sleep disorders (CRSD). CRSD includes four main kinds of disorders: the advanced sleep-wake phase disorder (ASPD), the delayed sleep-wake phase disorder (DSPD), the irregular sleep-wake rhythm disorder and the non-24-h sleep-wake rhythm disorder. Recent studies have begun to shed light on the genetic basis of CRSD. Deciphering the genetic codes for ASPD and DSPD has so far been more successful than the other CRSDs, which allow for the development of animal models and understanding of the pathological mechanisms for these disorders. And studies from humans or animal models implicate CRSDs are associated with adverse health consequences, such as cancer and mental disorders. In this review, we will summarize the recent advances in the genetics, underlying mechanisms and the adverse effects on health of ASPD and DSPD.

Automated summary

Nearly all living organisms have an internal circadian oscillation with a periodicity of approximately 24 hours. Misalignment between circadian rhythms and external environment can lead to circadian rhythm sleep disorders (CRSD), which have been found to be associated with adverse health consequences. Recent studies have made progress in understanding the genetic basis and pathological mechanisms of CRSD, particularly in advanced sleep-wake phase disorder (ASPD) and delayed sleep-wake phase disorder (DSPD).