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'Sleeping beauty' gene proves beastly for sufferers

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    March 16, 2011: Hungarian scientist Tamas Freund holds a human brain at the Institute of Experimental Medicine of Hungarian Academy of Science in Budapest.Reuters/Laszlo Balogh

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    Flumazenal, the liquid form of a drug that researchers say can help alleviate the symptoms of hypersomnia.Jack Kearse, Emory Health Sciences

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    Dr. David Rye, professor of neurology at Emory University School of Medicine, has discovered a mysterious âsomnogenâ apparently produced by the human body and tied to a rare sleep disorder.Jack Kearse, Emory Health Sciences

A mysterious molecule that turns people into modern-day Rip Van Winkles has been discovered in the brain, and it may be responsible for a rare disorder that has some sufferers sleeping more than 70 hours a week. 

The strange molecule, called a "somnogen," is believed to be at the root of the sleeping disorder, which in some cases also makes it difficult for people to wake up from their marathon sleep sessions. 

Related: 'Sleeping Beauty syndrome' causes teen to sleep for 64 days

The somongen is made up of amino acids, just like a protein, and may keep sufferers bedridden for years, said David Rye, professor of neurology at Emory University School of Medicine and director of research for Emory Healthcare’s Sleep Center Clinic.

“They feel as if they’re walking around in a fog – physically, but not mentally awake,” Rye told FoxNews.com.

The peptide was found in normal brains as well as those of people suffering from the rare disorder.

Study of this molecule may give scientists greater insight into how our brains regulate states of consciousness, such as alertness and sleep.

“There are still a lot of hurdles to overcome,” Rye said. “We’re working with a group of people who are naturally too sleepy and don’t respond well to the traditional drugs.”

'This could open up an entire new understanding of what keeps us awake and puts us to sleep.'

- Carl Brazil, director of the Comprehensive Epilepsy Center

Sufferers of the disorder, generically labeled “hypersomnia,” have reaction times during waking hours comparable to someone who has been awake all night, as if on an overseas flight. The sleep disorder interferes with work or school, and conventional treatments such as stimulants are not helpful.

Rye and his colleagues discovered that these patients have an unusual, biological need for sleep, caused by an excess amount of the substance in their cerebrospinal fluid (CSF), where it acts like a sleeping pill. CSF is found in the brain and spinal cord, and is studied through spinal taps.

Generally, neurologists, psychiatrists and other sleep experts have thought excessive sleepiness was caused by an impairment in the brain’s wake systems and treated it with stimulants. That doesn't work for the long-term, though, as stimulants can be addictive.

“This study represents a breakthrough in determining a cause for these disorders and devising a rational approach to therapy,” said Merrill Mitler, a program director at the National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, which helped fund the research.

The research, published Wednesday in the journal Science Translational Medicine, describes how CSF in hypersomnia sufferers contains a substance that enhances the effects of the brain chemical GABA (gamma-amino butyric acid.) GABA is one of the primary inhibitory chemicals of the nervous system. Taking alcohol, barbiturates and benzodiazepines enhances its natural effects.

“This research could open up an entire new understanding of what keeps us awake and puts us to sleep,” Carl Brazil, director of the Comprehensive Epilepsy Center in New York told FoxNews.com. “The number of patients with idiopathic hypersomnia is quite small … [but] there could be much broader implications for the treatment of sleepiness from many other causes -- and sleepiness is a rampant public health.”

The Real Sleeping Beauty

The research stretches back more than five years to when a patient, known at the medical school as “sleeping beauty,” came to the attention of the doctors there.

The sophisticated lawyer and Ivy League graduate was a woman in her 30s plagued with an unknown sleep disorder that ruined her career, forcing her to sleep as many as 57 consecutive hours.

Over time, a number of other professional patients, who had the same, strange hypersomnia, were discovered by the doctors there.

In the new study, Rye and his colleagues studied seven patients who remained sleepy despite above-ordinary amounts of sleep and treatment with stimulants. They discovered the somnogen -- and that treatment with the drug Flumazenil can restore alertness.

This drug has historically been used to treat patients who overdose on Valium, Ambien, and other related sedative and anesthetic drugs. Pharmacists at Emory worked to transform the drug into a pill form that could be taken under the tongue, rather than by IV.

Gene J. Koprowski is the author of Nanotechnology in Medicine: Emerging Applications (Momentum Press, 2012), and a co-author of The Encyclopedia of Health Services Research (Sage Publishing, 2009).