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
February 23,2020

Los Angeles, Feb 23: According to researchers, if administered quickly, a common medication that reduces bleeding could be a treatment for bleeding stroke.

The Spot Sign and Tranexamic Acid on Preventing ICH Growth - Australasia Trial (STOP-AUST) was a multicenter, prospective, randomized, double-blind, placebo-controlled, phase 2 clinical trial using the antifibrinolytic agent tranexamic acid in people with intracerebral hemorrhage (ICH).

ICH is a severe form of acute stroke with few treatment options.

Tranexamic acid is currently used to treat or prevent excessive blood loss from trauma, surgery, tooth removal, nosebleeds and heavy menstruation. For this study, one hundred patients with active brain bleeding were given either intravenous tranexamic acid or placebo within 4.5 hours of symptom onset.

Researchers analyzed brain CT scans taken during the 24-hour period after treatment with tranexamic acid or placebo.

Researchers found a trend towards reduced hemorrhage expansion in the group treated with tranexamic acid, especially in those treated within 3 hours of the brain bleed. However, this trend was not statistically significant. The finding was consistent with previous research using the medication.

"Further trials using tranexamic acid are ongoing and focusing on ultra-early treatment - within 2 hours. 

This is where the greatest opportunity for intervention appears to be. Tranexamic acid is inexpensive, safe and widely available. Our results and others provide great impetus for further, focused research using this treatment," Nawaf Yassi said.

Larger trials focused on patient outcomes are required for this therapy to enter routine clinical practice.

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Agencies
April 14,2020

There is no evidence that the Bacille Calmette-Guerin (BCG) vaccine, which is primarily used against tuberculosis, protects people against infection with the novel coronavirus, the World Health Organization (WHO) said.

The WHO therefore didn't recommend BCG vaccination for the prevention of COVID-19 in the absence of evidence, according to its daily situation report on Monday, Xinhua news agency reported.

"There is experimental evidence from both animal and human studies that the BCG vaccine has non-specific effects on the immune system. These effects have not been well characterized and their clinical relevance remains unknown," WHO stated.

Two clinical trials addressing the question are underway, and WHO will evaluate the evidence when it is available, it noted.

BCG vaccination prevents severe forms of tuberculosis in children and diversion of local supplies may result in an increase of disease and deaths from the tuberculosis, it warned.

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Agencies
June 21,2020

Lower neighbourhood socioeconomic status and greater household crowding increase the risk of becoming infected with SARS-CoV-2, the virus that causes COVID-19, warn researchers.

"Our study shows that neighbourhood socioeconomic status and household crowding are strongly associated with risk of infection," said study lead author Alexander Melamed from Columbia University in the US.

"This may explain why Black and Hispanic people living in these neighbourhoods are disproportionately at risk for contracting the virus," Melamed added.

For the findings, published in the journal JAMA, the researchers examined the relationships between COVID-19 infection and neighbourhood characteristics in 396 women who gave birth during the peak of the Covid-19 outbreak in New York City. Since March 22, all women admitted to the hospitals for delivery have been tested for the virus, which gave the researchers the opportunity to detect all infections -- including infections with no symptoms -- in a defined population

The strongest predictor of COVID-19 infection among these women was residence in a neighbourhood where households with many people are common.The findings showed that women who lived in a neighbourhood with high household membership were three times more likely to be infected with the virus. Neighbourhood poverty also appeared to be a factor, the researchers said.Women were twice as likely to get COVID-19 if they lived in neighbourhoods with a high poverty rate, although that relationship was not statistically significant due to the small sample size.

The study revealed that there was no association between infection and population density.

"New York City has the highest population density of any city in the US, but our study found that the risks are related more to density in people's domestic environments rather than density in the city or within neighbourhoods," says co-author Cynthia Gyamfi-Bannerman."

The knowledge that SARS-CoV-2 infection rates are higher in disadvantaged neighbourhoods and among people who live in crowded households could help public health officials target preventive measures," the authors wrote.

Recently, another study published in the Journal of the American Planning Association, showed that dense areas were associated with lower COVID-19 death rates.

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