Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Tuesday, July 19, 2011

Restless Legs Syndrome Could Be in Your Genes

Restless legs syndrome (RLS), according to the American Academy of Sleep Medicine, is a sleep related movement disorder that involves an irresistible urge to move the legs at night. It affects five percent to 10 percent of adults; in children the percentage is unknown.

A new study, published in PLoS Genetics, shows that RLS may be genetic. In the study, 922 people with the genes that are linked to RLS were compared to 1,526 healthy people. Seventy-six potential gene candidates were found. The genes were then replicated in 3,935 people with RLS and 5,754 healthy people.


By doing this the results were narrowed down to six genetic regions that are connected with an increased risk of RLS. There were four mutations. Two have already been reported on; however, two of them are new.

TOX3, one of the newly identified regions, is used by the brain to regulate activity. Earlier studies have shown that TOX3 protein protects brain cells from cell death. However, the connection between TOX3 and RLS is not clear.

Juliane Winklemann, a researcher at the Institute of Human Genetics in Munich, Germany, says that the findings of the study will help with creating new treatments for RLS. It will also provide more insight into the cause RLS.

Picture by spentYouth

Wednesday, February 9, 2011

Researchers Probe Family for Sleepwalking Gene

What’s passed down from your parents, grandparents and ancestors can impact the way you sleep. In some cases, genetics can be beneficial. For instance the short-sleep gene allows people to better cope with sleep loss. Other families have less helpful genes, like vulnerability to insomnia caused by depression. And rarest of all, a few families in the world carry the ticking time bomb of a gene that causes fatal familial insomnia – a degenerative condition that blurs the boundaries between sleep and wakefulness, eventually ending in death.

Somewhere in America, a group of researchers from Washington University School of Medicine have discovered a family with four generations of sleepwalkers. Nine out of 22 members of the family have been sleepwalkers. And they may hold the key to finding the cause - and potentially a cure - for sleepwalking.

So far the researchers have been able to identify the chromosomal location that contains the family’s sleepwalking gene. Further research is needed to identify the exact gene.

It’s been long known that sleepwalking is a highly heritable condition. Sleepwalking and other parasomnias such as sleep talking and bedwetting are not uncommon in childhood. About 10 percent of children sleepwalk compared to only 2 percent of adults.

It appears researchers are closer to learning why that 2 percent still sleepwalk.

Image by Xava du

Thursday, October 28, 2010

Sleepy Gene Worsens Effects of Sleep Deprivation

Some people are naturally wired to be tired. About 25 percent of people carry a gene variant that makes them sleepier than their peers, researchers have discovered.

The breakthrough explains why you might feel exhausted for staying up a half hour past your normal bedtime while your coworker in the next cubical has no problem regularly burning the candle at both ends.

People with a gene variant called DQB1*0602 are generally more fatigued whether they are rested or not because their sleep is more fragmented, researchers discovered. They spend less time in deep sleep compared to their peers. When they are fully rested, people with the gene variant have less desire to sleep.

The gene variant is closely related to narcolepsy, yet experts say anywhere from 12 to 38 percent of carriers are healthy sleepers who don’t develop the sleep disorder. Some people without the gene variant also develop narcolepsy, although it’s not as common.

The study compared 92 healthy adults without the gene variant to 37 healthy adults with DQB1*0602. Each participant spent a week at a sleep laboratory. For the first two nights they were allowed full rest, with a ten hour scheduled sleep period.
Sleep restriction followed for five nights. Each subject was allowed only four hours in bed and spent the rest of the time reading, playing games or watching movies.

Throughout the study, researchers measured the participants’ sleep quality and tested their memory, attention and ability to stay awake. Each person also reported how sleepy they felt.

When they were allowed full rest, people with the gene variant spent 34 minutes in stage three sleep compared to 43 minutes for people without the trait. After five nights of sleep deprivation people with the variant spent 29 minutes in deep sleep compared to 35 minutes for the control group.

While people with the variant were sleepier and more fatigued, they performed similarly in memory attention and daytime sleep resistance tests.

The findings may lead to changes in the way we look at sleep deprivation. AASM Member and medical director of Minnesota Sleep Disorder Center Dr. Mark Mahowald suggests doing away with sweeping statements about sleep deprivation.

“The implication is that everyone is sleep-deprived and sleep-deprivation does the same thing to everyone, but the tolerance and range of sleep is so different for different people,” Dr. Mahowald told ABC News.

"Our society has equated sleepiness with defects of character, like laziness and depression, but really, some people are generally sleepier during the day. They're more prone to naps, and to sleeping in. We have to accept the fact that sleep duration is genetically determined and not a sign of defect."