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Gene Mutation Sheds Light on 'Morning Larks'
Jan. 12, 2001 -- Are you a morning lark or a night owl? The answer may be in your genes, according to research published in the Jan. 12 issue of Sciencexpress. Discovery of a specific genetic mutation in a large family of "morning larks" is shedding light on this sleep disorder, and on the dramatic influence of molecular biology on behavior.
"This outstanding study takes a big step -- it shows us how dramatically human behavior can be changed by a single [mutation]," says Michael W. Young, PhD, who reviewed the study for WebMD. "This is the first time that a genetic variation has been linked to the sleep-wake cycle in humans." Young is head of the genetics laboratory at Rockefeller University in New York City.
"This research gives us a window to look into the biological clock and see what makes it tick," says Louis J. Ptacek, MD, a co-author of the study. "We have to understand how the human clock mechanism works before we can approach treatment of sleep disorders." Ptacek is a professor of neurology and human genetics at the University of Utah, and an associate investigator at the Howard Hughes Institute in Salt Lake City.
In 1999, a large family whose members complained of being "morning larks" came to the attention of study author Christopher R. Jones, MD, PhD, medical director of the University Health Sciences Sleep Disorders Center in Salt Lake City.
Compared with most people, the biological clock in affected members of this family ticks four hours ahead, so they fall asleep around 7:30 PM and wake up around 2:30-4:30 AM. Affected family members carry a specific genetic mutation that is autosomal dominant, meaning that odds of inheriting the trait from a single affected parent are 50:50.
"It's not a disease, but some find it disabling," Ptacek tells WebMD. "Some family members don't like waking up when it's cold, dark, and lonely, and falling asleep when everyone else is still socializing and having a good time."
On the other hand, some family members find that their unique biological clock gives them a distinct advantage, citing old adages like "The early bird gets the worm," and "Early to bed and early to rise, makes a man healthy, wealthy, and wise."
"Behaviors like sleep are subject to different perceptions, different psychological and sociocultural values -- not just genetic and environmental influences," Ptacek says.
Young is curious to know the full range of behaviors associated with this mutation, and suspects that the effects may be more far-reaching than just the effects on sleep. "Studying behavior in any organism is tricky, and studying the interaction between human behavior and genetics is even more difficult," he explains.
Complete analysis of biological and behavioral differences in this family may eventually lead to treatment that will help control differences in the wake-sleep cycle, for those that wish to do so.
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