Scientists Discover How Gene Mutation Reduces the Need for Sleep. A mutation in the gene DEC2 allows for some people to be natural short sleepers. It's every over-achiever's dream: a gene mutation that allows them to function normally with just four to six hours of sleep a night instead of the normal eight.
How rare is the DEC2 genetic mutation? The DEC2 genetic mutation that affects the body's circadian rhythm is extremely rare. It's estimated that only about 1% of the population are true natural short sleepers.
BHLHE41, also known as DEC2, is a gene located in chromosome 12 which encodes a protein called "basic helix-loop-helix transcription factor repressor". The gene is known for influencing the mechanics of the circadian rhythm which in and of itself influences sleep patterns, specifically the amount of sleep one gets.
In the human population, this is a rare mutation, with an incidence of 4.028/100,000 according to the Exome Aggregation Consortium database.
The DEC2 mutation is very rare and currently there are no genetic tests available for the mutated DEC2 gene. The studies on DEC2 gene look promising; however, there are many other gene mutations that act via different pathways to reduce the total sleep time.
But for a lucky few, maybe 1% to 3% of the population at most, sleep is little more than an afterthought, even an impediment. These “natural short sleepers,” as they are commonly called, need just four to six hours a night to wake up fully rested.
Everyone has two copies of the BLM gene, which we randomly inherit from each of our parents.
Non-24 is quite rare. A prevalence of 0.03% has been quoted. Non-24 occurs primarily among blind individuals, though some sighted persons have the disorder also.
Dopamine is a neurotransmitter associated with physical pleasure and reward. The disruption in this gene appears to make affected mice "lazy" – they quickly developed symptoms associated with metabolic syndrome in humans (a series of symptoms linked to obesity and inactivity).
In short, the experiments indicated that the mutation of ADRB1 encourages natural short sleep because it helps create brains that are easier to wake up, and that stay awake longer. Also, they won't suffer from the negative side effects of sleep deprivation.
Multiple factors can cause or contribute to sleep deprivation, including poor sleep hygiene, lifestyle choices, work obligations, sleep disorders, and other medical conditions. Sleep deprivation may be driven by voluntary choices that reduce available sleep time.
"Daily sleep needs fall along the bell curve like most physiological processes in nature. The average is eight hours of nightly sleep, but there are individuals who fall to the left or right due to genetic underpinnings." Scientists actually discovered a "short-sleep gene" in 2019.
Do you wake up tired and unrested every morning despite being in bed for 8 hours? Then it is likely that you are not getting the recommended 13-23% of deep sleep out of your total bedtime. It turns out genes play an essential role in influencing the deep sleep pattern of an individual.
Most adults need seven or more hours of sleep on a regular basis. For most people, getting less than six hours has a negative impact on health and performance. But a small percentage of adults are short sleepers. They regularly feel alert and refreshed after sleeping less than 6 hours.
Rare genetic disorders include: AA amyloidosis. Adrenoleukodystrophy (ALD). Ehlers-Danlos syndrome.
“Thinness is a heritable trait”
So thin people not only stay slim “by not having the obesity genes, but they also have different genes that protect them” from gaining weight, she said. The research concludes that “thinness, like obesity, is a heritable trait.”
The scientists found that thin people have a variant of what's known as the ALK gene. It's this variant of the gene that facilitates a resistance to weight gain, no matter what diet you're on, a finding suggested by follow-up experiments with mice and flies.
Intelligence is a polygenic trait, which means that there is no single gene that regulates it.
Cases with cycles less than 24 hours (which would be expected to result in a gradually advancing rhythm) are extremely rare.
Although the exact causes of DSPD are unknown, it is very common and affects up to 15% of adolescents and young adults. It is thought to be associated with lack of morning sunlight exposure or overexposure to bright light in the evening, due to the effect of light on the circadian rhythm.
Non-24-hour sleep-wake rhythm disorder (N24SWD) is one of several circadian rhythm disorders. People with these disorders have sleep times that seem to be out of alignment. Their sleep patterns do not follow the “normal” sleep times at night. The sleep time of people who have N24SWD shifts a little later every day.
Across evolutionary history, there are some genes that have been retained and unchanged across new species, sometimes referred to as immortal genes. These genes are sequences that code for universally advantageous traits across groups of species, and can therefore give insight into the workings of natural selection.
Because it has evolved into what researchers refer to as a “supergene”—a cluster of selfish genes on the same chromosome that are inherited together. Researchers have known for decades that SD evolved to form a supergene.
Bloom syndrome is rare, with about 283 cases reported to the Bloom Syndrome Registry. Although it occurs in many ethnic groups, it is more prevalent in people of Ashkenazi Jewish heritage whose ancestors were from Poland or the Ukraine.