Research press release


Nature Genetics

Risk factor for narcolepsy

ナルコレプシーの素因となる遺伝子多型が同定された。この成果を報告する論文は、Nature Genetics(電子版)に掲載される。ナルコレプシーの特徴は、日中に過剰な眠気を催すことと視力低下、筋力低下で、卒倒してしまうこともある。欧米では、2,500人に約1人の割合で発症するが、日本人の発症率は、この4倍以上になっている。



A genetic variant that predisposes to narcolepsy has been identified, according to a study published online this week in Nature Genetics. Narcolepsy is characterized by excessive daytime sleepiness, impaired vision, and muscle weakness that may lead to collapse. It occurs in approximately 1 in 2,500 individuals in the United States and Europe, but is at least 4 times more frequent in Japanese.

Katsushi Tokunaga and colleagues carried out a genome-wide association of Japanese individuals, and found one variant to be significantly associated with risk of narcolepsy. They also found support for the association in Koreans, but not in individuals of European or African descent, probably because the frequency of the risk variant is much lower in the latter two populations.

The risk variant is located between the genes CPT1B and CHKB, each of which is a reasonable candidate to have a role in the disorder. The gene CPT1B encodes an enzyme involved in fatty acid oxidation, which has been implicated in sleep regulation. CHKB encodes an enzyme that catalyzes the production of one of the major components of cellular membranes, which is a precursor to a molecule that has been linked to the sleep-wake cycle.

doi: 10.1038/ng.231

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