OCT 18, 2019 11:51 AM PDT

Rare Gene Mutation Prevents Memory Problems Brought on by Sleep Deprivation

WRITTEN BY: Carmen Leitch

Some rare individuals can get by with less sleep than the rest of us; after four to six hours, they are well-rested. Scientists have found that it’s because of their genes. Two of those genes have been identified by previous research, and now another has been revealed. This discovery has also shown that this gene stops the memory problems that are caused by sleep deprivation. Reporting in Science Translational Medicine, the researchers have suggested that this work can improve therapeutics that treat sleep disorders and improve the quality of sleep.

Image credit: Max Pixel

"Ten years ago, when we identified the first short sleep gene, the field of sleep genetics was in its infancy. People didn't think that genes could significantly influence sleep behaviors, and big breakthroughs were rare. Today the field is advancing much more rapidly, and we're beginning to get a better picture of how important your genes are to getting a good night's sleep," said the researcher that led the studies that revealed the three genes Ying-Hui Fu, Ph.D., a professor of neurology and member of the UCSF Weill Institute for Neurosciences. She discusses her research in the video below.

In this study, the scientists examined the genes of a father and son who average a short 5.5 and 4.3 hours of sleep per night. Most people need around eight hours or they will feel the effects of sleep deprivation. This father and his son don’t show any sign of the physical or mental problems that come with sleep deprivation.

"There are serious health consequences associated with sleep deprivation," noted the study co-author Louis Ptáček, M.D., a professor of neurology and a member of the Weill Institute. "People who are chronically sleep-deprived are more likely to suffer from obesity, diabetes, cardiovascular problems, depression and cognitive deficits."

Gene sequencing was done on samples from the father and son, and the researchers focused on a change in one letter or base pair of a gene called NPSR1. The gene codes for a protein on the surface of neurons, which is involved in the regulation of sleep. It plays a role in a wakefulness-promoting signaling pathway. The genetic mutation carried by the father and son is extremely rare, and is thought to occur in only one of every four million people.

The investigators modeled the mutation in mice, and found that when they carried the mutation, they slept less and were more active compared to normal mice. NPSR1 can activate proteins downstream of it in a biochemical pathway. The scientists also used a drug to trigger the activity of NPSR1 in normal and genetically modified mice, and found that in the modified mice, many more downstream proteins were activated; it was easier to trigger the mutant version of NPSR1 compared to the normal protein. Not only is the mutated NPSR1 easier to activate, it can switch other pathway components more efficiently.

After subjecting the mice to sleep deprivation and subsequent memory tests, the researchers observed memory problems in normal mice. The genetically modified mice carrying a mutant version of NPSR1 did not show those memory deficits, however.

"NPSR1 not only promotes short sleep, it also prevents memory problems that usually result from sleep deprivation," Fu explained. "This is the first gene that anyone's discovered that exerts a protective effect against one of the many adverse consequences of sleep deprivation."

"Not only does this discovery provides us with a better understanding of how genes contribute to an unusual sleep phenotype, it also offers up an appealing target for future therapies that may help treat sleep disorders or prevent certain cognitive deficits associated with lack of sleep," Ptáček concluded.


Sources: AAAS/Eurekalert! via University of California San Francisco, Science Translational Medicine

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
FEB 25, 2020
Genetics & Genomics
FEB 25, 2020
Improving Gene Therapy With Plant-Based Relatives of Cholesterol
Cholesterol analogs give nanoparticles a shape that helps them get where they need to go.
MAR 23, 2020
Cell & Molecular Biology
MAR 23, 2020
How a Father's Diet Can Impact the Health of His Offspring
When fathers consume a diet high in fat or low in protein it can increase the risk of metabolic disorders like diabetes ...
MAR 30, 2020
Genetics & Genomics
MAR 30, 2020
Scientists Discover an Antibiotic Resistance Gene
The gene enables bacteria to resist the effects of an aminoglycoside antibiotic called plazomycin.
APR 03, 2020
Neuroscience
APR 03, 2020
Why Autism is More Common in Boys than Girls
Researchers from the National Institutes of Health (NIH) have identified how a change in a single amino acid may be link ...
APR 13, 2020
Microbiology
APR 13, 2020
Even Bacteria Align With the Daily Cycle of Day and Night
The majority of living organisms on Earth have adapted in some way to the daily cycle of night and day.
APR 28, 2020
Genetics & Genomics
APR 28, 2020
Evolution Observed in Fish in a Single Generation
In a five year study, scientists have now shown that stickleback fish were able to alter some of their traits within a s ...
Loading Comments...