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UCSF study offers insight into human circadian rhythms

Scientists have identified a gene and mutation within it that causes a rare sleep behavior, in which individuals have a "fast" biological clock. The gene's enzyme could lead to a therapeutic target for the disrupted sleep patterns seen in such groups as those facing jet lag or nighttime work shifts.

More broadly, the gene provides a probe for exploring the regulatory mechanisms of the body's internal biological clock, or circadian rhythms -- a waxing and waning of genetic, biochemical and physiological processes that occurs in a 24 hour period -- about which little is known in humans at the molecular level.

As the findings hint that the genetic mutation might play a role in depression, the scientists are now exploring this possibility, as well.

"Evidence suggests that circadian rhythms may have a fundamental role in numerous behaviors," says Ying-hui Fu, PhD, associate professor of neurology at University of California, San Francisco and the senior author of the paper. "As the enzyme produced by the gene modulates many proteins, we may test for its impact on novelty seeking and learning and memory, too."

"The discovery of the gene opens the window just a crack, but it could let in a lot of light for probing the neurobiology of the brain," says co-senior author Louis Ptacek, MD, a Howard Hughes Medical Institute investigator and UCSF professor of neurology.

The finding, published in the March 31 issue of Nature, builds on previous research led by Ptacek and co-author Christopher Jones, PhD, associate professor of neurology at University of Utah. In 1999, in a study of three families with the unusual sleep pattern, known as familial advanced sleep phase syndrome (FASPS), the scientists created a family tree to map the incidence of inheritance, and made the seminal finding that the behavior was a single-gene trait. (Nature Medicine, Sept. 1999). In 2000, the team discovered the gene (hPer2) responsible for the condition in one
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Contact: Jennifer O'Brien
jobrien@pubaff.ucsf.edu
415-476-2557
University of California - San Francisco
30-Mar-2005


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