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 29,2020

Washington DC, Jun 29: Young children with narrow retinal artery diameters were more likely to develop higher blood pressure, and children with higher blood pressure levels were more likely to develop retinal microvascular impairment during early childhood, according to a new study.

The first study to show this connection in children was published today in Hypertension, an American Heart Association journal.

High blood pressure, the main risk factor for the development of cardiovascular disease (CVD), can manifest as early as childhood, and the prevalence of high blood pressure among children continues to rise. In previous studies, analysis of blood vessels in the retina has shown promise as a predictor of CVD risk among adults. In the study titled, "Retinal Vessel Diameters and Blood Pressure Progression in Children," researchers sought to predict the development of high blood pressure in children over four years based on retinal blood vessel measurements.

"Hypertension continues as the main risk factor for the development of cardiovascular diseases and mortality," says Henner Hanssen, M.D., the study's lead author and a professor in the department of sport, exercise and health at the University of Basel in Switzerland. 

"Primary prevention strategies are needed to focus on screening retinal microvascular health and blood pressure in young children in order to identify those at increased risk of developing hypertension. The earlier we can provide treatment and implement lifestyle changes to reduce hypertension, the greater the benefit for these children."

Researchers screened 262 children ages six to eight from 26 schools in Basel, Switzerland, in 2014, for baseline blood pressure and retinal arterial measurements. Both measures were taken again in 2018. Blood pressure measurements at both baseline and follow-up were performed in a sitting position after a minimum of five minutes of rest and were categorized based on the American Academy of Pediatrics' blood pressure guidelines. These guidelines utilize the same measurements as the American Heart Association/American College of Cardiology 2017 Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults.

Results from the analysis indicate: children with narrower retinal vessel diameters at baseline developed higher systolic blood pressure at follow-up; retinal vessel diameters could explain 29 -31 per cent of the changes in systolic blood pressure progression between 2014 and 2018; children with higher blood pressure levels at baseline developed significantly narrower arteriolar diameters at follow-up, depending on weight and cardiorespiratory fitness; and initial blood pressure measures explained 66-69 per cent of the change in retinal arteriolar diameter from baseline to follow-up.

"Early childhood assessments of retinal microvascular health and blood pressure monitoring can improve cardiovascular risk classification. Timely primary prevention strategies for children at risk of developing hypertension could potentially counteract its growing burden among both children and adults," said Hanssen.

Researchers noted limitations of their study include that they could not confirm blood pressure measurements over a single 24-hour period, so they would not account for "white coat" hypertension, a condition where patients have high blood pressure readings when measured in a medical setting.

Developmental stage including puberty status of each child was not accounted for in the study, as well as genetic factors or birth weight - variables that could impact blood pressure development and microvascular health.

In addition, reference values for appropriate retinal vessel diameters in children do not currently exist, so future studies are needed to determine age-related normal values during childhood.

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Agencies
April 15,2020

Dear parents, if you want your children to have proper sleep, read this carefully. Joining a growing list of studies that tell parents to shun devices at bed-time, researchers say that children who use devices and decide what time they go to sleep, achieve less sleep and feel more sleepier the following day than their peers.

The study of children in this age-group (aged 11 to 13 years), published in the New Zealand Medical Journal, found most (72 per cent) of the 163 students interviewed by University of Otago researchers achieved recommended guidelines of an average 9 to 11 hours sleep nightly over one week.

"But that also means that almost one in four students did not achieve sleep within these guidelines, which highlights an area for improvement," said study researcher Kate Ford.

However, consistent with previous research in 15 to 17-year-old New Zealanders, the study results show less sleep on the nights where devices are used in the hour before bed.

According to the researchers, students who used devices before going to sleep were also more likely to report that they felt sleepy the following morning. Watching television before bed had no significant effect on sleep length.

There were also some interesting observations over the weekends where students went to bed later but woke later achieving similar sleep length to the school days, the researchers said.

A small group of students (six per cent) who reported less than seven hours of sleep, including a small number reporting not sleeping at all, according to the study,

Therefore, while the average across the week of 72 per cent of students reporting adequate sleep is reassuring, it is far from the goal of every child achieving sleep within the recommended guidelines," Ford said.

Dr Paul Kelly, head of the Sleep Health Service at Canterbury District Health Board, supervised the study and explained that the foundations for good health are based on proper nutrition, regular exercise and good sleep quality.

Sleep quality is often overlooked as a contributory factor to poor health.

"The study findings suggest the need for parental guidance around bedtimings and moderation of the use and availability of electronic devices before bed," Kelly said.

"Respect and protect your sleep, as good daytime functioning is reliant on adequate sleep," Kelly added.

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News Network
July 10,2020

Toronto, Jul 10: Pasteurising breast milk at 62.5 degrees Celsius for 30 minutes inactivates the SARS-CoV-2 virus that causes Covid-19, making it safe for consumption by babies, a study claims.

According to the research published in the Canadian Medical Association Journal, current advice for women with Covid-19 is to continue to breastfeed their own infants.

In Canada, it is standard care to provide pasteurised breast milk to very-low-birth-weight babies in hospital until their own mother's milk supply is adequate, the researchers said.

"In the event that a woman who is Covid-19-positive donates human milk that contains SARS-CoV-2, whether by transmission through the mammary gland or by contamination through respiratory droplets, skin, breast pumps and milk containers, this method of pasteurisation renders milk safe for consumption," said Sharon Unger, a professor at the University of Toronto in Canada.

The Holder method, a technique used to pasteurise milk in all Canadian milk banks at 62.5 degrees Celsius for 30 minutes, is effective at neutralising viruses such as HIV, hepatitis and others that are known to be transmitted through human milk, the researchers said.

In the latest study, the researchers spiked human breast milk with a viral load of SARS-CoV-2 and tested samples that either sat at room temperature for 30 minutes or were warmed to 62.5 degrees Celsius for 30 minutes.

They then measured for active virus, finding that the virus in the pasteurised milk was inactivated after heating.

More than 650 human breast milk banks around the world use the Holder method to ensure a safe supply of milk for vulnerable infants, the researchers said.

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