Gene mutations in mice mimic human-like sleep disorder, researchers find

May 20, 2008

DALLAS – May 20, 2008 – Mutations in two genes that control electrical excitability in a portion of the brain involved in sleep create a human-like insomnia disorder in mice, UT Southwestern Medical Center researchers have found. The findings may help scientists better understand the disorder and provide an animal model for developing treatments.

“This is one of the most dramatic sleep-disturbance mutations,” said Dr. Rolf Joho, associate professor of neuroscience and senior author of the paper, which appears online today and in the May 21 issue of The Journal of Neuroscience. “The mice sleep half as much as normal mice.”

The mutant mice appeared to have a condition similar to a human disorder called sleep maintenance insomnia, in which sufferers can get to sleep, but don’t remain at rest for long.

“We’re trying to look at where in the brain this originates,” Dr. Joho said. “The same mechanism could be involved in many neurophysiological disorders.”

The researchers focused on two genes that encode molecules known as ion channels. An ion channel is a pore that spans a cell’s membrane, opening and closing to allow charged atoms, or ions, to cross the membrane. The coordinated opening and closing of various ion channels allows nerve cells to carry electrical signals.

In the current study, the researchers examined two channels that allow potassium ions to cross the cell membrane. The researchers genetically engineered mice to have defects in the ion channels Kv3.1 and Kv3.3, which normally open and close much faster than other potassium channels.

These channels are common in a portion of the brain called the thalamic reticular nucleus, which is thought to act as a “pacemaker” during sleep, controlling slow-wave sleep – the deep, restful sleep that occurs without dreams.

The mutant mice slept only 50 percent to 60 percent as much as normal mice. Measurements of their brain waves showed that they entered slow-wave sleep, but only for short periods before waking again.

The mice did not readily get restful sleep even after sleep deprivation, the researchers found.

In future studies, the researchers hope to focus on the Kv3.1 mutation alone, which they believe, based on previous studies might be the primary factor in the sleep disturbances, while Kv3.3 mutations might affect muscle coordination.

The researchers also plan to investigate ways to restore function of Kv3.1 with potential drugs. So far, there are no medications that affect this ion channel.

Source: UT Southwestern Medical Center

Explore further: Additional benefit of omega-3 fatty acids for the clearance of metabolites from the brain

Related Stories

Brain's biological clock stimulates thirst before sleep

September 28, 2016

The brain's biological clock stimulates thirst in the hours before sleep, according to a study published in the journal Nature by researchers from the Research Institute of the McGill University Health Centre (RI-MUHC).

Aberrant Tau proteins put neuronal networks to sleep

October 7, 2016

The brain could easily be compared to the internet. In both networks information is transmitted from one unit to the next with numerous units making up the network. Unlike computers, neurons are interconnected by axons, thin ...

Chronobiology—internal clocks in synch

October 14, 2016

Ludwig II of Bavaria is a particularly striking example of how differently people's internal clocks can tick. Historical sources tell us that the monarch usually carried out his government business at night and slept during ...

Recommended for you

Natural compound reduces signs of aging in healthy mice

October 27, 2016

Much of human health hinges on how well the body manufactures and uses energy. For reasons that remain unclear, cells' ability to produce energy declines with age, prompting scientists to suspect that the steady loss of efficiency ...

A metabolic switch to turn off obesity

October 27, 2016

You've tried all the diets. No matter: you've still regained the weight you lost, even though you ate well and you exercised regularly! This may be due to a particular enzyme in the brain: the alpha/beta hydrolase domain-6 ...

Scientists develop 'world-first' 3-D mammary gland model

October 27, 2016

A team of researchers from Cardiff University and Monash Biomedicine Discovery Institute has succeeded in creating a three-dimensional mammary gland model that will pave the way for a better understanding of the mechanisms ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.