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.

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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

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.

A Leap Forward, but Hurdles Remain in Narcolepsy

   According to the New York Times findings on this article, narcolepsy was first described over 125 years ago. This occurs when a lack of a neurochemical called hypocretin is found causing this sleep disorder. Patients are missing most of the brain cells that make the wakefulness-promoting protein due to effects of narcolepsy. Classic narcolepsy symptoms are a combination of irresistible sleepiness and sudden collapses from muscle weakness
   Although, there are two new medications produced in the last decade, there still is no cure for the correction of their hypocretin deficiency. Researchers are now trying to answer the most important question for these patients, "What destroys the hypocretin-producing neurons in the first place"? According to a neurologist at Harvard Medical School, he mentions that we know now the cellular abnormality but still not the cause of it. Other researchers have said for it to be, the sense of the immune system attacking itself and killing the hypocretin neurons. The reason for this theory is the fact that many years ago case studies showed that a large amount of narcoleptics carry a gene variant for an immune defense protein called H.L.A. In controversial matter, many healthy people have this genetic marker as well.
   Scientists and researchers are now examining that the loss of cells that make hypocretin does not explain all cases of narcolepsy which affects about 1 in 2,000 people. Most patients struggle through daytime drowsiness and nod off at inopportune moments, about a quarter to half of patients do not even experience the attacks of muscle weakness or loss of muscle tone often triggered by pleasant emotions such as laughter or other strong emotions.

  It is interesting how narcolepsy is characterized as partially genetically contributed as well as environmentally affected illness. This disorder has progressed increasingly throughout the last few years on understanding the diagnosis at early adolescence and its prognosis with treatments. Although, there is not a known cure yet I am confident there will be some type of solution in the nearby future. Breakthrough treatments started in 1999 of a wakefulness-promoting drug called "modafinil" followed by sedative sodium oxybate in 2002. There is a future for narcoleptics, with treatment now and days, patients can attend school, work and have a social life. Already, a new drug in the making called "histamine H3 receptor blockers are being tested on narcoleptic patients. There's even a hypocretin nasal spray developing at the Wake Forest University to ultimately revive the brain activity in sleep-deprived monkeys, its progress is keeping the monkeys awake for 30 hours straight!

http://www.medicalnewstoday.com/articles/270481.php

New Treatment for African Sleeping Sickness Comes Closer

The central thesis identifying the drugs that can target the parasite, Trypanosoma brucei, which causes the African sleeping sickness, will be presented on November 8, 2013 by researchers from Umeå University.  This study will provide scientific evidence that a cure for this illness which is generally transmitted by tsetse fly can be developed. This inflection causes sleep disturbances and many neurological issues with the final stage resulting in unconsciousness and death. 

        The drug targets the RNA building blocks which resembles DNA building blocks.  Additional research is required regarding the production of the DNA building blocks from precursor molecules. These building blocks are made in stages called phosphorylation where enzyme are produced, then dATP. Soon after, the dATP becomes toxic to the parasite and they perish in a few hours. The researchers discovered that this process is more effective than deoxyadenosine in killing off the parasite. 

        In is interesting to note, that in roughly thirty-six Sub-Saharan Africa countries lack of medical information about the extent of the population that is effected by this disease. So, if we could get a cure that is inexpensive, easily produced and distributed, Africans quality of lives would be dramatically changed. 

http://www.sciencedaily.com/releases/2013/11/131105194643.htm

 

http://www.medfak.umu.se/english/about-the-faculty/news/newsdetailpage/new-treatment-for-african-sleeping-sickness-comes-closer.cid224226

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.