Sleep deprived family help find narcolepsy mutation

A European team of researchers has identified the mutation that triggers narcolepsy by studying a large family who suffer from this rare disorder.

Narcolepsy is a condition characterised by frequent and uncontrollable urges to sleep at inappropriate times and places. While most narcolepsy cases are believed to be brought on by complex mechanisms, some cases are linked to inherited mutations that have yet to be identified.

Academics from Spain and Switzerland performed a genetic analysis on 12 affected members of the family. They discovered that the myelin oligodendrocyte gene (MOG) had a mutation not found in unaffected family members or in hundreds of unrelated controls.

Oligodendrocytes, which provide support to cells in the central nervous system, produce the myelin protein, a key material in the myelin sheath that ensures the proper functioning of the nervous system. As reported in their paper, the MOG protein was not properly distributed within the cells, leading the team to consider that the mutant MOG failed to work properly.

The researchers believe that the role of myelin and oligodendrocytes is important in disease susceptibility in other complex neuropsychiatric disorders.

Leila Sattary

Leila is a freelance science writer specialising in science funding and research policy. She is a former editor of the Euroscientist. She writes for a variety of online and print journals including news and features for Chemistry World, her Lab Rant column for Laboratory News and many more. In her day job she works as a Project Officer at the University of Oxford with particular interest in research policy, knowledge exchange and impact.

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One thought on “Sleep deprived family help find narcolepsy mutation”

  1. This is much that we still have to learn about myelin, and recent studies with mice have found links between motor neurone disease and MS too.  http://www.bodyscientist.com/myelin-the-nervous-systems-insulation-cable/