1. Home
  2. Health
  3. Sleep Disorders

Narcolepsy Gene Breakthrough

(An Update)

From About.com

Updated: June 20, 2006

About.com Health's Disease and Condition content is reviewed by our Medical Review Board

Researchers at Stanford University,led by Emmanuel Minot, MD., Ph.D., have identified the gene that causes the sleep disorder, narcolepsy. This is good news for those who suffer from this debilitating illness, and for their families. Will a cure be forthcoming? Possibly. But it may take a while. The identification of the gene has taken 36 years of research.

So far the gene has been documented in dogs and mice , but researchers believe a similar faulty gene will turn up in human sufferers of narcolepsy. Once the human gene has been identified, this will lead to new methods of treatment and possibly a cure.

Narcolepsy is a widespread disorder, affecting and afflicting more than a hundred thousand people in America. It's the second leading cause of daytime drowsiness, surpassed only by obstructive sleep apnea. It can also cause a condition known as cataplexy. Cataplexy is a sudden, temporary, loss of muscle tone caused by an emotional response. Cataplexy affects only the voluntary muscles, and sometimes you may feel like your heart or breathing may stop This is not going to happen.. During an attack, the victim may fall to the ground and become completely helpless for several minutes. These attacks can occur during any strong emotion -- anger, fear, grief, or even laughter.

As well as a breakthrough in narcolepsy research, this new discovery is a giant step toward understanding the molecular basis of sleep. This will help us understand more about the mysterious condition known as sleep. At present, although some of the idiosyncrasies of sleep are known, we still have much to learn. It is hoped that this new revelation will help us find ways to treat, and possibly cure, many other sleep disorders.

Another related news item informs is that scientists have identified a small area of the brain that may control sleepiness. This, too, could lead to new treatments for sleep disorders. More research, more breakthroughs. Hopefully all of these will lead to the eventual relief of all sleep disorders and let the sufferers of the world get a good night's sleep at last.

The gene, known as hypocretin receptor 2, allows the cell to receive messages from other cells. The defective gene fails to recognize these message so the cell is unable to recognize them and therefore, doesn't receive important directives like the one to stay awake and alert.

Dogs suffer from narcolepsy and cataplexy much the same as humans. Other research revealed that the disease is transmitted by a recessive trait passed down from the parents. In other words, narcolepsy is inherited, but it isn't necessary for the parents to display symptoms of the disease, but only to possess this receptive gene.

Now that this gene has been discovered, it is possible that further research will eventually find a cure for this devastating disorder. In an in-depth article in the January issue of Scientific American, Jerome M. Siegel, chief of neurobiology research at the Sepulveda Veterans Affairs Medical Center, reports on the research being done at Stanford and the complementary study led by Masashi Yanagisawa at University of Texas in Dallas.

A great deal more research may need to be done, and it may be some time before an actual cure is found, but this is definitely a step in that direction, and should give hope of eventual relief to the many sufferers of the debilitating effects of narcolepsy.

Explore Sleep Disorders

More from About.com

About.com is accredited by the Health On the Net Foundation, which promotes reliable and trusted online health information.
  1. Home
  2. Health
  3. Sleep Disorders
  4. Narcolepsy
  5. Narcolepsy Gene
  6. Narcolepsy Gene Breakthrough

©2008 About.com, a part of The New York Times Company.

All rights reserved.