Genetics and how it is linked to sleep deprivation

    The amount of sleep a person gets on average varies for a multitude of reasons. These can be and are not limited to: caffeine intake, sleeping schedules, sleeping patterns, etc. But what you may not have known is that the amount of sleep a person may get is also due to genetics. 

    In every person, there is an internal clock. It is located in the brain and regulates the timing of certain functions. Everyone's internal clock is set to 24 hours, but it may vary. Genes are a factor of how fast or slow this internal clock, also known as circadian rhythms, ticks. Genes control circadian rhythm by encoding "clock proteins." This forms an internal feedback loop in which a cell will produce proteins within a span of 24 hours. The production of rhythm ticks does poorly in light because light indicates that it is daytime which limits the production of melatonin. This is only one example but this shows how genetics can cause the amount of sleep a person may get. 

    If you are a person that lacks sleep, there should be measures taken to allow the production of Circadian rhythm to function properly as eliminating light when you are trying to sleep. 

Links:

https://www.sciencedirect.com/science/article/pii/S0006295221000897

https://sleep.hms.harvard.edu/education-training/public-education/sleep-and-health-education-program/sleep-health-education-80

Insomnia Genetically Tied to Increased Risk of Aneurysm

A new study of 70,000 adults revealed that those who are genetically predisposed to insomnia have an increased risk of brain bleeds, more commonly known as aneurysms. Those who have genetic insomnia are 24% more likely to experience aneurysms, which are usually fatal within 24 hours. 

This study centered around lifestyle choices, but also focused on the IL6R gene, which is responsible for the interleukin‐6 receptor (IL6R). Disruptions or mutations in this gene are associated with chronic insomnia. This gene also enables exposure to other genetic diseases such as multiple myeloma, autoimmune diseases, and prostate cancer.

In general, any sleeping disorder leads to higher blood pressure, so doing research to try to solve the root cause of these sleeping disorders will greatly help lower the rate of aneurysms. However, it is unclear that this specific gene is the only genetic factor responsible for an increased risk of aneurysms.

The Genetic Roots of Sleep Issues and Autism May Be Related

According to a new study of autistic people and their relatives, the genetic factors that have a role in autism may be entwined with those that underlie insomnia. This discovery may be able to help explain the common co-occurrence of autism and sleep issues. According to previous research, up to 90 percent of people with autism encounter disrupted sleep, and approximately 30 percent have a clinical diagnosis of a certain sleep disorder. The study reveals that close relatives of those with autism are also at a high risk to develop insomnia.

50,097 autistic people, along with nearly 56,000 of their full siblings, 31,669 half-siblings and 214,665 cousins were identified by using the Swedish national health registries. Approximately 23 percent of the autistic participants suffered from insomnia or took melatonin, in comparison with 1.1 percent of the control group participants. The study showed that the more closely related the relatives are to the austistic individual, the higher the chances that they will suffer from sleeping issues. For example, identical twins had about 6.6 times the typical odds of suffering from insomnia, while cousins had approximately 1.3 times the usual odds. Out of this study, shared genetic factors explained 94 percent of the correlation, whilst nonshared environmental influences accounted for only 6 percent.

Helpful Links:

Study: Etiological links between autism and difficulties in initiating and maintaining sleep: a familial co-aggregation and twin study

Article: Genetic roots of sleep issues, autism may be entwined

Do Genes Control Your Sleep?

Recent studies suggest that sleeping too much or sleeping too little could be genetically linked. Abnormal sleeping patterns are connected to the regulation of thyroid hormone levels, specifically the DNA region located close to the PAX8 gene. Excessive sleepers are those who sleep more than 10 hours a day, and this condition is called hypothyroidism which occurs when the thyroid glands do not produce enough thyroid hormones. Hyperthyroidism is when too many thyroid hormones are produces which  results in insomnia, and those affected sleep less than 6 hours a day.

There is another sleeping pattern where people can function normally with only 4-6 hours of sleeping. This sleep pattern is a result of a mutation in the DEC2 gene, and typically expressed as falling asleep between 11pm and midnight, and waking up as early as 4 pm. This mutation results in alertness decreasing late at night allowing individuals to fall asleep faster, and waking you up alert and ready in the early morning. This mutation is rare, but different sleep patterns are controlled by different genes.

Is insomnia an issue in your life?

    If you do not suffer from insomnia there is a high chance that at least you know someone that does. The negative effects of not being able to sleep at night are more serious than what we think. This involves physical health overall and also the efficiency at work or any other activity. Researchers have found that the inability of falling asleep involves a genetic component. Nature genetics provided information related to the issue and this implicates issues in brain regions related to heart diseases as well as psychiatric disorders such as depression. These studies have used DNA from many individuals. The first study done by Danielle Posthuma from Vrije University Amsterdam examined 1.3 million people using data from the genetics company 23andMe. Their results states “ 202 areas of the genome linked to insomnia were identified, indicating 956 genes”. 

    The next part of the investigation was to figure in which regions of the brain this was taking place. As a result they found them to be within the axons of neurons and parts of the cortex and the deep subcortical brain regions such as the striatum which is involved in movement. Another researcher, Richa Saxena from of Massachusetts General Hospital surveyed 450,000 genomes also from a Biobank. This investigation resulted in 236 genes in 57 regions. An extra step taken in this case was the observations of participants who wore motion detectors for a week in order record tossing, turning and sleepwalking. Their conclusion was that insomnia is related to neuropsychiatric disorders. Cognitive behavioral therapy can be more helpful rather than taking drugs which might not be as effective and can be addictive.

 People with insomnia have trouble falling asleep, staying asleep and in some cases both.

Even though I do not have this issue, I do know people that suffer from insomnia on a daily basis. Sometimes even people that stay awake all night due to their work schedules, are still not able to sleep at night. To people that do not suffer from insomnia as myself, we might think how is that even possible but it is a problem that unfortunately many people have. As mentioned, this will eventually cause health issues as well as not being productive due to lack of sleep.

Can't Sleep? Blame Your Genes

A recent article published in "Medical News Today" claims that insomnia may run in the family. According to the article, a person's genetics have a strong influence over whether or not they will suffer from insomnia. A 2015 study conducted on both identical and nonidentical twins at VCU discovered that, usually, if one twin has insomnia, the other twin is more likely to suffer from insomnia as well. Because identical twins share the same DNA, this suggests that there likely is one or more genes that cause or can be linked to insomnia. With this information, the next step has become identifying what specific genes have a correlation with insomnia. Multiple studies have been able to isolate a few of the genes that lead to insomnia. The data also suggests that there are genes that are exclusive to men and women that can affect one's sleep habits. One large study of the genome of over one million insomniacs has found about 956 genes across 202 locations on various chromosomes that possess some kind of link to insomnia, while a second, smaller study found 57 locations. Most of these genes affect the development of various parts of the brain associated with processing external stimuli. This may be contributing to the restlessness associated to the inability to fall asleep. However, this article also clarifies that genetics alone does not lead to insomnia, as stress levels and different lifestyles can contribute toward insomnia as well.

I found the relationship between genetics and insomnia somewhat surprising. In the past, I thought of insomnia as a symptom rather than a disorder. I thought that if you had one night where you could not fall asleep, than that night you suffered from insomnia. I did not view insomnia as a persistent disorder or disease, which it technically is. While insomnia can be broken down into acute or chronic, I believe the fact that it can be genetic makes me view insomnia more as a disease. Despite the fact that treatments such as sleeping pills already exist, I believe that this increased knowledge about insomnia and how it can be caused will lead to better, healthier solutions to the long, sleepless nights that many humans find themselves afflicted with.

The Genetics Behind Insomnia

An article at the Scientific American discusses the the findings of studies done on the genetic basis of Insomnia, and its possible link to things like depression and heart disease. There were two genome-wide association studies or GWAs done on insomnia, and it was found that when looking that when looking at a wide variety of individuals there were several area of the genome that were linked to insomnia, and even more genes that were involved with it. In the studies it was also found that several of the genes involved with insomnia are also linked to things like depression, anxiety, and type 2 diabetes. It was also found that insomnia is more closely related to psychiatric diseases than it is to other sleep related disorders, and that it may cause depression and coronary artery disease.

I found this article to be fascinating because many people wouldn't think that a disorder like insomnia could genetically linked when it in fact is. I also think it is rather interesting that many of these diseases and disorders that were previously believed to have no link to genetics actually do now that they are being looked into. These studies are now helping to open the door for further research and discovery in the biology of these disorders.

Genetic Origin of Insomnia

In an article within Scientific American, there are biological side of insomnia which influences the brain and biological processes and uncovered a tie with heart disease and mental illness, genome-wide association studies (GWASs), which examine DNA from many thousands of individuals to determine where genetic markers related to health, disease or a particular trait reside. There were two studies that analyzed genomes and found genes which were affected. The results showed that insomnia is more related to neuropsychiatric disorders than sleep habits such as morning or night person. In addition, insomnia may be linked to causing depression and coronary artery disease. 

As someone who has a hard time sleeping occasionally, it can take a toll on your body both physically and mentally. Genetic origin of the affects on different genes of insomnia is something that can impact the future of how people can treat it. People make false ideas about curing insomnia by drinking tea or listening to ocean waves when in reality it's there genetics that are controlling the effects. 

Fatal Familial Insomnia

Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.

The disease is linked to be found in the PRNP gene, which produces a protein called prion protein, or PrP. In FFI the variant gene, the PrP that is produced develops an abnormal 3-dimensional shape that is described as misfolded. This is toxic to the body, especially to cells of the nervous system. In FFI, misfolded PrP is primarily found in the thalamus, which is a structure deep within the brain that helps to regulate many functions of the body including sleep, appetite, and body temperature. As the misfolded PrP builds up in the thalamus, it results in a progressive destruction of nerve cells (neurons), which leads to the symptoms of the disorder.

FFI is classified as a transmissible spongiform encephalopathy (TSE) or a prion disease. Prion diseases are caused by the accumulation of misfolded prion proteins in the brain. This disorder is very rare, and it degenerates the brain. The characteristic symptom in FFI is progressive insomnia. Some people may start having insomnia suddenly and from being mild it then becomes progressively worse until an affected individual gets very little sleep. The lack of sleep leads to physical and mental deterioration and the disease ultimately progresses to coma and death.

This disease can be a product of two unaffected parents and in rare instances, a variation in the PRPN gene in individuals with FFI occurs spontaneously, without a family history of the disease. However, a person that is affected with this disease could pass on the variant gene to their offspring in an autosomal dominant manner. Unfortunately, there is no cure for this disease, but researchers are finding a way to help treat the disease.

Sources

https://rarediseases.org/rare-diseases/fatal-familial-insomnia/ Fatal Familial Insomnia

https://ghr.nlm.nih.gov/gene/PRNP PRNP gene

prion protein

Insomnia has been linked to several genes

Insomnia is a disorder than many of us have had to go through at some point in our lives. But only 10% of the entire country has been reported to have chronic insomnia. A group of researchers found seven different genes that coded for insomnia, proving it is a genetic disorder that is fairly common. The researchers also found that the genes that code for insomnia also link to many other genetics disorders such as, restless leg syndrome, anxiety, depression, and neuroticism. This article was interesting to read because it has always been known that disorders like anxiety and depression were commonly associated with insomnia. Not everyone has been affected by insomnia directly but almost everyone has known someone who suffered from insomnia.

https://www.medicalnewstoday.com/articles/317919.php?sr
https://sleepfoundation.org/insomnia/content/what-causes-insomnia

Lacking the Sleep you Need? Could be in your Genes...

Man suffering from Insomnia

Lacking the Sleep you Need? could be in your Genes...

It can be observed, through previously done testing, that an ongoing lack of sleep can lead to serious health issues, such as heart disease, diabetes, depression, and other mental illnesses. In a 2018 study, done by Murray Stein of the University of California, the previously known relationship between hereditary and insomnia was retested, to find the specific gene variants that are involved.

To complete his research, Stein and his team, DNA from more than 33,000 soldiers, in addition to soldiers of European, African, and Latino descent, were taken and studied; this was completed to determine whether ancestral lineage was a factor. The results were incredible. Stein’s study verified that insomnia, indeed, was partially due to genetics. In addition, it was confirmed that a link between insomnia and type II Diabetes and depression existed.

This genetic variance occurs on chromosome 7, and in European descents, a difference on chromosome 9. On chromosome 7, a correlation between the gene AUTS2, the gene for alcohol consumption, and the lack of sleep was found. These traits are in direct relation to brain development. According to Stein, “Such insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.” Stein’s study holds importance, because it could change the way people suffering from insomnia are treated. New, safer treatments could possibly emerge, in the future, simply by understanding the molecular bases of insomnia.

Article URL: https://www.sciencedaily.com/releases/2018/03/180309095520.htm

Image: https://news.uthscsa.edu/study-shows-insomnia-military-can-treated-without-medications/

Evidence Shows That Your Genetics is Linked to the Development of Insomnia

This study looked at individual genes that cause the development of sleeping problems. It showed evidence of a genetic link between insomnia and certain psychiatric disorders and certain physical conditions. The study was run by Murray Stein from the University of California. One of the major culprits of loss of sleep is insomnia, 20% of Americans have problems sleeping. Insomnia greatly effects a person’s health in a negative way, which puts stress on the healthcare system. Insomnia has been linked with many long-term health issues such as diabetes, heart disease, PTSD, and suicide. Past studies have shown that traits like insomnia can be inherited. Understanding the molecular foundation for insomnia is key to being able to develop new treatments for this sleep disorder. This study shows evidence that insomnia is somewhat heritable. The study found a link between insomnia and depression and a strong link to type 2 diabetes. These links propose that there is a genetic trait that is common between these co-occurring phenotypes. The evidence from this study supports the evidence found in previous studies.



After reading this article from ScienceDaily, I looked for some more research on the linkage of insomnia to genetics. I found an article on another study that found seven genes that were identified as a link to insomnia. This study found similar evidence, to the previous study, that also linked these genes with certain psychological disorders. This study also found a link to two other common sleep disorders - periodic limb movements of sleep and restless legs syndrome.

Insomnia is in your genes, not all in your head: Discovery could lead to targeted treatments for sleep problems

A dutch study has identified seven genes that put people at increased risk of developing sleeplessness. Insomnia in individuals is linked to their genes and the condition could have little to do with stress. Although bad sleeping habits, sleeping schedule and other factors play a part in insomnia among individuals, it's emerged that much of the condition is down to one's genetic makeup. The research was carried out by scientists at Vrije University in Amsterdam by mapping the DNA of more than 113,000 people from Britain and the Netherlands. They also found a strong genetic overlap with other traits such as anxiety disorders, depression and neuroticism, and low well being. This comes as no surprise because individuals with these traits tend to suffer from insomnia. This founding is groundbreaking because it paves new way for drugs to designed in a such a way that it targets the proteins that lead to these mutations to help treat the condition instead of the millions of sleeping tablets that are prescribed every year.

Mutation Related to Migraines Identified Through Sleep Patterns

 According to Medical News Today, a link has been identified between migraines and an advanced and unusual sleep disorder.  The disorder is known as familial advanced phase sleep syndrome.  FAPSS is a rare sleep disorder in which an individual's circadian rhythm causes that person to go to sleep at an early time and then wake up well before dawn.  For example, someone with this disorder would be known to go to bed around 6:00 pm and then would wake up around 3:00 am.  Because this sleep disorder is so rare, doctors were able to determine a connection when they noticed that those individuals that are affected by the disorder are also commonly affected by migraines.

  So, what's the link?  The mutation occurs when the enzyme CKIδ becomes impaired.  The enzyme CKIδ is known as a common "housekeeping" enzyme because it functions in maintaining several different, basic processes and regulations throughout the body.  One of CKIδ's functions is to help control the circadian rhythm that determine's the sleep cycle. 

In the mid 1990s, Dr. Robert E. Shapiro was working with a family that was known to have familial advanced phase sleep syndrome.  It was by working with this family that he was able to make the connection that the family members also suffered from migraines.  Because migraines alone are so vague and common, the mutation in the CKIδ enzyme would have been impossible to discover based on the presence of migraine symptoms alone.  Eventually, the mutation was identified to be the cause of the sleep disorder and further studies were then conducted to decipher whether or not the mutation also had a direct impact on migraines. 

The mutation in the CKIδ gene now creates a total of 6 genes that have been isolated and found to cause migraines.  Studies are currently underway to develop a new drug therapy for the treatment of migraines.