Sleep Disorders

13 October 2008

Gene mutation linked to narcolepsy

Scientists have identified a genetic mutation linked to narcolepsy, a disease that can cause someone to doze off in mid-sentence or behind the wheel of a car, a study reports.

Scientists in Japan have identified a genetic mutation linked to narcolepsy, a disease that can cause someone to doze off in mid-sentence or behind the wheel of a car, a study reports.

Other symptoms of the condition, which shows up in late adolescence or early adulthood, include excessive daytime drowsiness, vivid hallucinations on the threshold of sleep, and the sudden, temporary loss of muscle control, often triggered by emotional shock.

A team of researchers led by Katsushi Tokunaga at the University of Tokyo compared the genetic profiles of persons with and without the sleep-inducing disease.

Across four different ethnic groups, patients with narcolepsy were far more likely to carry a specific mutation of DNA located between two genes, one of which has been associated with sleep regulation and the other with the sleep-wake cycle.

Genetic variant common in Koreans
The statistical link was strongest among Japanese, but remained significant among Europeans and persons of African descent as well. The study also showed that the suspect genetic variant - known as rs57770917 - is common among Koreans.

The prevalence of the disease varies widely in different countries. In Europe and the United States, narcolepsy is roughly as common as Parkinson's disease or multiple sclerosis, affecting on average one in every 2 500 people.

But in Japan the frequency is four times higher, while in Israel only one in half-a-million people have the condition. There is no known cure for narcolepsy, which is often treated with stimulants to combat daytime fatigue.

Previous studies had already pointed to genetic factors as playing a role. An immediate family member with narcolepsy increases one's chances of having the disease by 10 to 40 times.

It was found that all Japanese suffering from the disease carried another genetic variant. But fully ten percent of the Japanese population shared that same mutation, so researchers suspected the existence of additional genetic drivers as well.

The authors of the new study said their findings could point the way to "new therapeutic approaches" designed to target the neurochemical reactions patterned by the wayward genetic material.

The research was published in journal Nature Genetics, part of the British-based Nature Publishing Group. – (Sapa, October 2008)


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Dr Alison Bentley is a general practitioner who has consulted in sleep medicine and sleep disorders, in both adults and children of all ages, for almost 30 years. She also researches and publishes on a number of sleep-related topics both in formal research journals and lay publications including as editor of Sleep Matters, an educational newsletter on sleep disorders for doctors.

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