Can't sleep on time? 'Night owl' gene variant may be to blame

April 7, 2017

Washington, Apr 7: If you've been a night owl all your life and mornings are your nemesis, blame a gene mutation for keeping you awake, scientists say. Researchers at Rockefeller University in the US have discovered that a variant of the gene CRY1 slows the internal biological clock - called the circadian clock - that normally dictates when you feel sleepy each night and when you are ready to wake.sleep

People with the "night owl" variant of this gene have a longer circadian cycle than most, making them stay awake later, researchers said. "Compared to other mutations that have been linked to sleep disorders in just single families worldwide, this is a fairly impactful genetic change," said Michael W Young, professor at Rockefeller.

According to the new research, the mutation may be present in as many as one in 75 people in some populations. Sleep or wakefulness disorder - ranging from insomnia to narcolepsy - can predispose people to chronic diseases including diabetes, obesity and depression. People who self-categorise as night owls are often diagnosed with delayed sleep phase disorder (DSPD).

Their 24 hour sleep-wake cycle is delayed, making them energetic long after most people have fallen asleep. Going to bed late has its downsides: most people with DSPD are forced to wake up before their bodies tell them to in order to make it to work or school on time, leading not only to insomnia early in the night, but also to fatigue during the day.

To find out whether mutations in any known circadian genes were linked to DSPD, subjects were asked to spend two weeks in a laboratory apartment that was isolated from all cues to the time of day, eating and sleeping whenever they were inclined. Researchers also collected skin cells from each person. Most people will follow a roughly 24 hour sleep-wake cycle when put in such a free-run environment.

However, a DSPD subject that caught the researcher's interest not only stayed up late, but had a cycle that was about 30 minutes longer. Moreover, changes in body temperature and hormones that cycle along with the circadian clock - including melatonin, which helps regulate sleep - were also delayed.

"Melatonin levels start to rise around 9 or 10 at night in most people. In this DSPD patient that doesn't happen until 2 or 3 in the morning," said Young. When the researchers examined the DNA from the DSPD patient, one variant stood out; a mutation in CRY1, a gene that had already been implicated in the circadian cycle.

In a healthy circadian clock, a handful of genes turn on and off over a 24 hour cycle. The protein made by CRY1 is normally responsible for suppressing some of these genes during certain parts of the cycle. However, researchers discovered that the mutation identified in the patient made the CRY1 protein more active than usual, keeping other clock genes switched off for a longer period of time.

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Agencies
June 17,2020

Leading physicians are celebrating a small dose of good news that arrived Tuesday about dexamethasone, a cheap and widely used steroid shown to be able to save lives among COVID-19 patients, but also cautioning against releasing study results by press release during a global health emergency, like in the case of the latest dexamethasone study by University of Oxford.

"It will be great news if dexamethasone, a cheap steroid, really does cut deaths by one-third in ventilated patients with COVID19, but after all the retractions and walk backs, it is unacceptable to tout study results by press release without releasing the paper", Atul Gawande, surgeon and CEO of Haven Healthcare, tweeted.

"Bottom line is, good news," Dr. Fauci, America's foremost infectious diseases expert told a US newswire on Tuesday, soon after the dexamethasone results were announced in the UK.

Fauci, who has long championed the therapeutics-first view said that dexamethasone is a "significant improvement" in the available therapeutic options currently available.

On Medical Twitter and Facebook, doctors broadly agree that dexamethasone use aligns well with the way COVID19 attacks the body's immune system. Fauci said the results in the Oxford study make "perfect sense" in that context.

"We should see the number of people who actually survive go up, if the study holds up," virologist and epidemiologist Dr. Joseph Fair told a television network.

Global coronavirus cases crossed 8 million on Tuesday. In the US, Texas and Florida are facing a new wave of cases after lifting lockdown orders earlier than medical experts recommended. Amidst the relentless graph upwards, the dexamethasone study results injected hope for better survival rates among those most seriously ill.

World Health Organization chief scientist Soumya Swaminathan welcomed the results from the randomised control trial.

Dr Eugene Gu, Founder and CEO of CoolQuit tweeted that he is "genuinely impressed" with the UK dexamethasone trial. This may be a "game changer", he wrote.

"There's no conflict of interest as dexamethasone is a generic steroid. The mechanism of action makes sense because steroids can reduce cytokine storms and overactive immune systems that makes COVID-19 so deadly. The number needed to treat is 8 ventilated patients which is great."

The Oxford study found that dexamethasone reduced deaths by 35 percent in patients who needed treatment with breathing machines and by 20 percent in those only needing supplemental oxygen. Dexamethasone was one of 5 drugs studied in a large clinical trial in the United Kingdom named RECOVERY, short for Randomised Evaluation of COVID-19 Therapy.

Peter Horby, chief investigator of the University of Oxford clinical trial, said dexamethasone is the first drug to be shown to improve survival in COVID-19. Details of the study have not been released. The trial organisers said they made their announcement via a news release because of "the public health importance of these results." According to Horby's public comments, there was a lot of initial resistance to studying steroids.

During the study, 2,104 patients were randomly selected to be given 6 milligrams of dexamethasone once a day (either by mouth or by intravenous injection) for 10 days. That group was compared with 4,321 patients who received the usual care alone.

Researchers estimated that dexamethasone would prevent one death for every eight patients treated while on ventilators and one for every 25 patients on extra oxygen alone.

UK experts have called the study results a breakthrough in the fight against the virus. The researchers have promised they would publish the results soon.

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News Network
March 5,2020

Bergen, Mar 5: Divorce of parents may impact the academics of children negatively, suggests a new study.

According to the study, parental divorce is associated with a lower grade point average (GPA) among adolescents, with a stronger association seen in teens with more educated mothers.

The study was published in the journal PLOS ONE.

Children and adolescents with divorced or separated parents are known to do less well in school than adolescents with nondivorced parents and to be less well-adjusted, on average, across a spectrum of physical and mental health outcomes.

In the new study, researchers used data from the youth@hordaland study, a population-based survey of adolescents aged 16-19 conducted in the spring of 2012 in Hordaland County, Norway.

19,439 adolescents were invited to participate and 10,257 agreed; of those, 9,166 are included in the current study.

Overall, adolescents with divorced parents had a 0.3 point lower GPA (standard error 0.022, p<0.01) than their peers.

Controlling for parental education reduced the effect by 0.06 points to 0.240 (SE 0.021, p<0.01). This heterogeneity was predominantly driven by maternal education levels, the researchers found.

After controlling for paternal education and income measures, divorce was associated with a 0.120 point decrease in GPA among adolescents whose mothers had a secondary school education level; a 0.175 point decrease when mothers had a Bachelor's level education; and a 0.209 point decrease when mothers had a Master's or PhD level education (all estimates relative to adolescents with a mother who had a basic level of education, such as ISCED 0-2).

Due to the cross-sectional structure of the study, researchers could not investigate specific changes between pre- and post-divorce family life, and future studies are needed to investigate potential mechanisms (such as reduced parental monitoring or school-involvement) which might drive this finding.

Nonetheless, this study provides new evidence that the negative association between divorce and teens' GPA is especially strong in families with more educated mothers.

"Among Norwegian adolescents, parental divorce was hardly associated with GPA among youth whose parents have low educational qualifications. In contrast, among adolescents with educated or highly educated mothers, divorce was significantly associated with lower GPA," said the authors.

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Agencies
March 15,2020

Should you let your babies "cry it out" or rush to their side? Researchers have found that leaving an infant to 'cry it out' from birth up to 18 months does not adversely affect their behaviour development or attachment.

The study, published in the Journal of Child Psychology and Psychiatry, found that an infant's development and attachment to their parents is not affected by being left to "cry it out" and can actually decrease the amount of crying and duration.

"Only two previous studies nearly 50 or 20 years ago had investigated whether letting babies 'cry it out' affects babies' development. Our study documents contemporary parenting in the UK and the different approaches to crying used," said the study's researcher Ayten Bilgin from the University of Warwick in the UK.

For the study, the researchers followed 178 infants and their mums over 18 months and repeatedly assessed whether parents intervened immediately when a baby cried or let the baby let it cry out a few times or often.

They found that it made little difference to the baby’s development by 18 months.

The use of parent’s leaving their baby to ‘cry it out’ was assessed via maternal report at term, 3, 6 and 18 months and cry duration at term, 3 and 18 months.

Duration and frequency of fussing and crying was assessed at the same ages with the Crying Pattern Questionnaire.

According to the researchers, how sensitive the mother is in interaction with their baby was video-recorded and rated at 3 and 18 months of age.

Attachment was assessed at 18 months using a gold standard experimental procedure, the strange situation test, which assesses how securely an infant is attached to the major caregiver during separation and reunion episodes.

Behavioural development was assessed by direct observation in play with the mother and during assessment by a psychologist and a parent-report questionnaire at 18 months.

Researchers found that whether contemporary parents respond immediately or leave their infant to cry it out a few times to often makes no difference on the short - or longer term relationship with the mother or the infants behaviour.

This study shows that 2/3 of mum's parent intuitively and learn from their infant, meaning they intervene when they were just born immediately, but as they get older the mother waits a bit to see whether the baby can calm themselves, so babies learn self-regulation.

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