The 2017 Nobel Prize in Medicine or Physiology was jointly awarded to Jeffrey C. Hall, Michael Rosbash and Michael W. Young for characterizing the circadian rhythm at a level of molecular operation. Although the concept of biological clocks was well understood, pioneering work lead by these researchers in the 1980’s and 1990’s provided the first descriptions of which biological gears produce this intrinsic oscillation.
Drosophila Melanogaster was selected as the model organism in these gene studies, due to its swift reproductive life-cycle and simple genetic makeup. In 1984, a paper introduced a novel study into what was designated as a period (per) locus . Concurrent analyses of per+ (period locus present) and pero (period locus deleted) flies had previously shown that pero lacked a stable circadian rhythm phenotype, measured especially through rhythmic analysis of courtship singing. This experiment further demonstrated that flies heterozygous for this deletion expressed a disrupted rhythm of approximately 25 hours. Furthermore, transduction of regions of the per gene onto pero flies lead to mitigation of arrhythmic phenotypes. Overall, this study solidified understanding of the genetic basis for circadian rhythms, and paved way for the products and regulation of the per gene to be closely studied.
Their elucidation of these mechanisms is heavily implicated in medical science, especially through circadian rhythm sleep disorders (CRSD) . Delayed Phase Sleep Disorder, Advanced Phase Sleep Disorder, and Non-24-Hour Sleep Wake Rhythm are the primary chronic CRSD’s. Shift Work Disorder is another CRSD, characterized by sleep disruption present in individuals working night shifts or jobs that intermittently change shift times. Current treatment options for these diseases involve behavioral therapy, in which exposure to light, caffeine, and other stimulants is more closely regulated, bright light therapy, in which a specialist works to reset an individual’s clock, and over the counter medications such as melatonin. However, research into the genetic basis of circadian rhythms could provide a plethora of future treatment options for CRSD’s.
Edited by: Kassandra Diaz