BioQuakes

AP Biology class blog for discussing current research in Biology

Tag: circadian rhythm

A Gene Mutation that Keeps You Awake and Functioning for Longer

INTRODUCTION:

Could a gene mutation really allow someone to finish college in two and a half years? The answer is yes! We all wish we could get by a function perfectly, or even better than normal, on less sleep. This is a reality for some, specifically people with a rare gene mutation. I saw an article titled, “Why Do Some People Need Less Sleep? It’s in their DNA,” and I thought this was a rather interesting topic, because I have never heard of less sleep ever being a positive thing. I am interested to see more research on this, and the possibility of it being an added benefit for others. It prompted me to think about whether or not this is something I would want, considering some of the implications. 

People with this gene mutation can get significantly less sleep than recommended for function, as little as three to four hours—without suffering any health consequences and while actually performing on memory tests as well as, or better than, most people. There is now a new study correlating to a new genetic mutation found with these “powers,” after previous studies revealed other types of mutations that may impact sleep.

 

HOW DID IT START?: 

To understand this rare ability when presented to them, scientist Ying-Hui Fu and her team, at the University of California, San Francisco, in 2009, began this study on some individuals, but also on mice, to simulate a similar sleep equilibrium to humans. After a woman came in claiming she was functioning at a high level on very short sleep time, scientists needed to understand, as lack sleep is typically correlates with health issues such as risk of heart attack, cancer, or even Alzheimer’s. They initially found a small mutation in the DEC2 gene, a transcriptional repressor (hDEC2-P385R) that is associated with a human short sleep phenotype. According to UCSF, DEC2 helps regulate “circadian rhythms, the natural biological clock that dictates when hormones are released and influences behaviors such as eating and sleeping. This gene oscillates this particular c schedule: rising during the day, but falling at night.” The newer study reveals that the DEC2 gene lowers your level of alertness in the evening by binding to and blocking MyoD1, a gene that turns on orexin production, a hormone involved in maintaining wakefulness. Fu says the mutation seen in human short sleepers weakens DEC2’s ability to put the breaks on MyoD1, leading to more orexin production and causing the short sleepers to stay awake longer.

THE NEW GENE MUTATION: 

In a new study, released on October 16, 2019, by Science Translational Medicine brought on by a mother and daughter duo, mice were studied again to mimic the human sleep pattern. The mice again required less sleep, and were able to remember better. In the study, researchers identified a point mutation in the neuropeptide S receptor 1 (NPSR1) gene responsible for the short sleep phenotype. The mutation increased receptor sensitivity to the exterior ligand, and mice with the mutation displayed increased mobility time and reduced sleep duration. Even more interestingly, the animals were resistant to cognitive impairment induced by sleep deprivation. The results and findings in the study point to NPSR1 playing a major role in sleep-related memory consolidation. NSPR1 is a gene that codes for a brain receptor that controls functions in sleep behaviour and awakeness. In the new study, when mice were given this gene mutation, there were no obvious health, wellness, or memory issues over time. Although the family members did not appear to experience any of the negative effects of sleep deprivation, the researchers make sure to emphasize that longer term studies would be needed to confirm these findings.

WHAT DOES THE FUTURE HOLD?: 

In the future, a possible drug could be produced to synthesize a change in one of these genes, as a possible treatment for insomnia or other sleep disorders. We would need a lot more research about their functions, though, because of possible negative neurological side effects. 

If a medication with these powers were to exist, do you think it would cause social issues regarding some  possibly forcing certain individuals to take it to work longer hours/get more done? Do you think that it should be available to everyone, or only people with certain conditions? Comment about this below. 

 

Jet Lag Prevention

Jet lag can be a difficult issue to deal with when traveling across time zones and no one wants to be drowsy while on their vacation. Jet Lag is caused when your circadian rhythm  is out of sync with the environment you are in. Circadian rhythm is the internal, biological clock that drive changes within most organisms. Normally, your circadian rhythm is controlled by several factors such as exercise and melatonin levels but the most prevalent factor is light exposure. Light exposure can cause phase shifts which are changes in your circadian rhythm. With this information, scientist have shown in a recent study that you can follow four simple steps to minimize jet lag:

1. Estimate when your body temperature reaches a minimum. If sleeping 7 or fewer hours per night, assume this is 2 hours before your usual wake time. If sleeping more, assume this is 3 hours before your usual wake time.

2. Determine whether you need to advance or delay your circadian rhythms. If you are flying east (to a later time zone), such as from Los Angeles to New York, you will need to phase advance. Otherwise, if you are flying west, you will need to phase delay.

3. If you need to phase advance, avoid light for 4 hours before your body temperature minimum, and seek light for 4 hours after it. Otherwise, do the opposite.

4. Shift your estimated body temperature minimum by one hour earlier per day if phase advancing, or one and a half hours later per day if phase delaying.

Photo taken by Mary Lane

 

Waking up without the alarm clock? There’s a reason!

 

Have you ever wondered why you wake up before your alarm clock?

This article explains how new studies show that humans do have a special biological clock that allows us to wake up in the morning. This “clock” gets our metabolism going early in the day, the signal to wake up our bodies.  The important part of this biological clock is a protein called PERIOD (PER).  This protein rises and falls in our bodies throughout a 24 hour cycle. When PER lowers at night, our heart rate slows, our blood pressure lowers, and our mental processes slow down.  Now, through studies funded by Salk’s Innovation Fund, it is found an enzyme helps raise the PER protein once again in the morning.  This enzyme, JARID1a, is required for normal cycling, including the circadian rhythm.

Have your grandparents ever wondered why they can not sleep at night as well anymore?  Findings show that as you grow older, your biological clock declines, and with it, a difficulty in sleeping.

Even diabetes has been linked to this research.  Diabetes goes in turn with the biological clock, which controls its metabolic cycles.  The conversion of fats and sugars only take place at certain times of the day.  With someone who has diabetes, this suggests that the biological clock has lost control.

Numerous times I have woken up before my alarm clock, frustrated about not getting those extra few minutes of sleep.  Now, through this study, I understand that its my bodies’ protein levels telling my metabolism to start the day.

For more information on your biological clock, click here.

 

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