Chapter 10. Biological Rhythms and Sleep
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Tina Hesman Saey To rewrite an Alanis Morissette song, the brain has a funny way of waking you up (and putting you to sleep). Isn’t it ionic? Some scientists think so. Changes in ion concentrations, not nerve cell activity, switch the brain from asleep to awake and back again, researchers report in the April 29 Science. Scientists knew that levels of potassium, calcium and magnesium ions bathing brain cells changed during sleep and wakefulness. But they thought neurons — electrically active cells responsible for most of the brain’s processing power — drove those changes. Instead, the study suggests, neurons aren’t the only sandmen or roosters in the brain. “Neuromodulator” brain chemicals, which pace neuron activity, can bypass neurons altogether to directly wake the brain or lull it to sleep by changing ion concentrations. Scientists hadn’t found this direct connection between ions and sleep and wake before because they were mostly focused on what neurons were doing, says neuroscientist Maiken Nedergaard, who led the study. She got interested in sleep after her lab at the University of Rochester in New York found a drainage system that washes the brain during sleep (SN: 11/16/13, p. 7).When measuring changes in the fluid between brain cells, Nedergaard and colleagues realized that ion changes followed predictable patterns: Potassium ion levels are high when mice (and presumably people) are awake, and drop during sleep. Calcium and magnesium ions follow the opposite pattern; they are higher during sleep and lower when mice are awake. © Society for Science & the Public 2000 - 2016
Link ID: 22163 - Posted: 04.30.2016
Jon Hamilton People who sustain a concussion or a more severe traumatic brain injury are likely to have sleep problems that continue for at least a year and a half. A study of 31 patients with this sort of brain injury found that 18 months afterward, they were still getting, on average, an hour more sleep each night than similar healthy people were getting. And despite the extra sleep, 67 percent showed signs of excessive daytime sleepiness. Only 19 percent of healthy people had that problem. Surprisingly, most of these concussed patients had no idea that their sleep patterns had changed. "If you ask them, they say they are fine," says Dr. Lukas Imbach, the study's first author and a senior physician at the University Hospital Zurich in Zurich. When Imbach confronts patients with their test results, "they are surprised," he says. The results, published Thursday in the online edition of the journal Neurology, suggest there could be a quiet epidemic of sleep disorders among people with traumatic brain injuries. The injuries are diagnosed in more than 2 million people a year in the United States. Common causes include falls, motor vehicle incidents and assaults. Previous studies have found that about half of all people who sustain sudden trauma to the brain experience sleep problems. But it has been unclear how long those problems persist. "Nobody actually had looked into that in detail," Imbach says. A sleep disorder detected 18 months after an injury will linger for at least two years, and probably much longer, the researchers say. © 2016 npr
Anna Nowogrodzki Prions, the misfolded proteins that are known for causing degenerative illnesses in animals and humans, may have been spotted for the first time in plants. Researchers led by Susan Lindquist, a biologist at the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts, report that they have found a section of protein in thale cress (Arabidopsis) that behaves like a prion when it is inserted into yeast. In plants, the protein is called Luminidependens (LD), and it is normally involved in responding to daylight and controlling flowering time. When a part of the LD gene is inserted into yeast, it produces a protein that does not fold up normally, and which spreads this misfolded state to proteins around it in a domino effect that causes aggregates or clumps. Later generations of yeast cells inherit the effect: their versions of the protein also misfold. This does not mean that plants definitely have prion-like proteins, adds Lindquist — but she thinks that it is likely. “I’d be surprised if they weren’t there,” she says. To prove it, researchers would need to grind up a plant and see whether they could find a protein such as LD in several different folded states, as well as show that any potential prion caused a misfolding cascade when added to a test-tube of protein. Lindquist adds that because she's not a plant scientist — her focus is on using yeast to investigate prions — she hasn't tried these experiments. The study is reported on 25 April in the Proceedings of the National Academy of Sciences1. © 2016 Nature Publishing Group
By Clare Wilson One day, you might be seeing in blue for 24 hours before you have an operation – to prevent organ damage. A study in mice suggests that exposure to blue light reduces a form of organ damage that is common during surgery. Reperfusion injury can happen when blood vessels are temporarily tied off during surgery, or when blocked arteries are surgically widened after a heart attack or stroke. Some damage is caused by a lack of oxygen, and further harm results when oxygen levels rebound, causing cells to become overactive, and triggering an attack by the immune system. But blue light seems to reduce this, in mice at least. Matthew Rosengart of the University of Pittsburgh, Pennsylvania, and his team have found that when mice are exposed to blue light for 24 hours before the blood supply to their liver or kidney is temporarily tied off, there is less reperfusion injury than if the mice are exposed to other types of light. “That’s pretty remarkable,” says Jack Pickard, a reperfusion researcher at University College London. Further tests showed that blue light seems to dampen down the sympathetic nervous system, which is involved in mammal stress responses. In turn, this reduced the activity of immune cells called neutrophils, which are involved in inflicting the damage of a reperfusion injury. © Copyright Reed Business Information Ltd.
Keyword: Biological Rhythms
Link ID: 22145 - Posted: 04.26.2016
Yuki Noguchi Hey! Wake up! Need another cup of coffee? Join the club. Apparently about a third of Americans are sleep-deprived. And their employers are probably paying for it, too, in the form of mistakes, productivity loss, accidents and increased health insurance costs. A recent Robert Wood Johnson Foundation report found a third of Americans get less sleep than the recommended seven hours. Another survey by Accountemps, an accounting services firm, put that number at nearly 75 percent in March. Bill Driscoll, Accountemps' regional president in the greater Boston area, says some sleepy accountants even admitted it caused them to make costly mistakes. "One person deleted a project that took 1,000 hours to put together," Driscoll says. "Another person missed a decimal point on an estimated payment and the client overpaid by $1 million. Oops. William David Brown, a sleep psychologist at the University of Texas Southwestern Medical School and author of Sleeping Your Way To The Top, says Americans are sacrificing more and more sleep every year. Fatigue is cumulative, he says, and missing the equivalent of one night's sleep is like having a blood alcohol concentration of about .1 — above the legal limit to drive. "About a third of your employees in any big company are coming to work with an equivalent impairment level of being intoxicated," Brown says. © 2016 npr
By Nicholas Bakalar Eating a high-fat diet may lead to daytime sleepiness, a new study concludes. Australian researchers studied 1,800 men who had filled out food-frequency questionnaires and reported on how sleepy they felt during the day. They were also electronically monitored for obstructive sleep apnea, which causes people to wake up many times during the night. After adjusting for factors that could influence sleep — smoking, alcohol intake, waist circumference, physical activity, medications, depression and others — they found that compared with those in the lowest one-quarter for fat intake, those in the highest one-quarter were 78 percent more likely to suffer daytime sleepiness and almost three times as likely to have sleep apnea. The connection of fat intake to apnea was apparent most clearly in people with a high body mass index, but the positive association of fat intake with daytime sleepiness persisted strongly in all subjects, regardless of B.M.I. Thestudy is in the journal Nutrients. “The possible mechanism could be meal timing, but we didn’t have that information,” said the lead author, Yingting Cao, a doctoral candidate at the University of Adelaide. “But we have reason to believe that circadian rhythm, hormones and diet all work together to create these effects. © 2016 The New York Times Company
Laura Sanders Away from home, people sleep with one ear open. In unfamiliar surroundings, part of the left hemisphere keeps watch while the rest of the brain is deeply asleep, scientists report April 21 in Current Biology. The results help explain why the first night in a hotel isn’t always restful. Some aquatic mammals and birds sleep with half a brain at a time, a trick called unihemispheric sleep. Scientists have believed that humans, however, did not show any such asymmetry in their slumber. Study coauthor Yuka Sasaki of Brown University in Providence, R.I., and colleagues looked for signs of asymmetry on the first night that young, healthy people came into their sleep lab. Usually, scientists toss the data from the inaugural night because the sleep is so disturbed, Sasaki says. But she and her team thought that some interesting sleep patterns might lurk within that fitful sleep. “It was a little bit of a crazy hunch,” she says, “but we did it anyway.” On the first night in a sleep lab, people with more “awake” left hemispheres took longer to fall asleep. This asymmetry was largely gone on the second night, and people fell asleep more quickly. During a deep sleep stage known as slow-wave sleep, a network of nerve cells in the left side of the brain showed less sleep-related activity than the corresponding network on the right side. Those results suggest that the left side of the brain is a lighter sleeper. “It looked like the left hemisphere and the right hemisphere did not show the same degree of sleep,” Sasaki says. This imbalance disappeared on the second night of sleep. © Society for Science & the Public 2000 - 2016
By Lisa L. Lewis On Tuesday, U.S. News and World Report released its annual public high-school rankings, with the School for the Talented and Gifted in Dallas earning the top spot for the fifth year in a row. The rankings are based on a wealth of data, including graduation rates and student performance on state proficiency tests and advanced exams, as well as other relevant factors—like the percentage of economically disadvantaged students the schools serve. But there’s one key metric that isn’t tracked despite having a proven impact on academic performance: school start times. First-period classes at the School for the Talented and Gifted start at 9:15 a.m. That’s unusually late compared to other schools but is in keeping with the best practices now recommended by public health experts. Teens require more sleep than adults and are hardwired to want to sleep in. Eight hours a night may be the goal for adults, but teens need between 8.5–9.5 hours, according to the American Academy of Pediatrics. Unfortunately, few teens meet that minimum: Studies show that two out of three high school students get less than eight hours of sleep, with high school seniors averaging less than seven hours. Sure, kids could go to bed earlier. But their bodies are set against them: Puberty makes it hard for them to fall asleep before 11 p.m. When combined with too-early start times, the result is sleep deprivation.
By Kj Dell’Antonia If you tell your child’s pediatrician that your child is having trouble sleeping, she might respond by asking you how well you sleep yourself. A team of Finnish researchers found that parents with poor sleep quality tended to report more sleep-related difficulties in their children than parents who slept well. But when the researchers looked at an objective monitor of the children’s sleep, using a bracelet similar to a commercial fitness tracker that monitored movement acceleration, a measure of sleep quality, they found that the parents were often reporting sleep problems in their children that didn’t seem to be there. “The only thing that was associated with sleeping problems, as reported by the parents, was their own reported sleeping problems,” said Marko Elovainio, a professor of psychology at the University of Helsinki and one of the authors of the study, which was published this month in the journal Pediatrics. The study was relatively small, involving 100 families with children aged 2 to 6. But the findings suggest that parents’ report of sleep problems in their children are influenced by their own attitudes and behaviors surrounding sleep. The researchers were inspired to do their study, in part, by research showing that mothers with depression over-report behavioral problems in their children, seeing issues that teachers do not see. In pediatrics, the researchers noted, doctors rely heavily on parental reports for information — and if that information is biased by a parent’s own experience, diagnosis becomes more difficult. “Sleep is a good measure of stress,” said Dr. Elovaino, and it is one tool doctors use to evaluate how much stress a child is experiencing. But when making a diagnosis involving a child’s sleeping patterns, “we can’t rely on reports of parents. We need to use more objective measures.” One reason to look at sleep in this context, he said, is that unlike other possible markers of stress, it can be measured objectively. © 2016 The New York Times Company
Link ID: 22073 - Posted: 04.06.2016
Feel like you haven’t slept in ages? If you’re one of the 5 per cent of the population who has severe insomnia – trouble sleeping for more than a month – then your brain’s white matter might be to blame. The cell bodies and synapses of our brain cells make up our brain’s grey matter, while bundles of their tails that connect one brain region to another make up the white matter. These nerve cell tails – axons – are cloaked in a fatty myelin sheath that helps transmit signals. Radiologist Shumei Li from Guangdong No. 2 Provincial People’s Hospital in Guangzhou, China, and her team, scanned the brains of 30 healthy sleepers and 23 people with severe insomnia using diffusion tensor imaging MRI. This imaging technique lights up the white matter circuitry. Axons unsheathed They found that in the brains of the people with severe insomnia, the regions in the right hemisphere that support learning, memory, smell and emotion were less well connected compared with healthy sleepers. They attribute this break down in circuitry to the loss of the myelin sheath in the white matter. A study in November suggested that smoking could be one cause for myelin loss. The team also found that the insomniacs had poorer connections in the white matter of the thalamus, a brain region that regulates consciousness, alertness and sleep. The study proposes a potential mechanism for insomnia but there could be other factors, says Max Wintermark, a radiologist at Stanford. He says it’s not possible to say whether the poor connections are the cause of result of insomnia. © Copyright Reed Business Information Ltd.
Link ID: 22069 - Posted: 04.05.2016
By Rachel Zelniker, A long dark winter can be mentally and physically exhausting, but a recent study published in the journal of Clinical Psychological Science challenges the idea that it's making people depressed. Seasonal affective disorder (SAD) is commonly believed to affect a significant portion of the population in the Northern Hemisphere during the darker winter months. As many as 35 per cent of Canadians complain of having the "winter blues," according to the Centre for Addiction and Mental Health. Another 10 to 15 per cent have a mild form of seasonal depression, while about two to five per cent of Canadians will have a severe, clinical form of SAD. The disorder is based on the theory that some depressions occur seasonally in response to reduced sunlight — but recent research says that theory may be unsubstantiated. "We conducted a study using data that looked at the relationship between depression in a fairly large sample of people distributed over several degrees latitude in the United States," said Steven G. LoBello, a psychology professor at Auburn University in Montgomery, Ala., and one of the study's authors. "We looked across the four seasons to see if there was an association with sunlight, and we simply didn't find a direct relationship with sunlight, the seasons, or latitude." LoBello's study does not look at populations north of the 49th parallel, but he is confident his findings hold. "We cite in our paper a paper by [Vidje Hansen] that looked at this problem in Norway, which is north of the Arctic Circle, and they experience the polar night." According to LeBello, that research "did not find any relationship between an increase in depression and the duration of the polar night." A "seasonal pattern" modifier for depression diagnoses was officially added to the Diagnostic and Statistical Manual of Mental Disorders (DSM) in 1987. ©2016 CBC/Radio-Canada.
By Jordana Cepelewicz Last week a senior National Football League official acknowledged for the first time the link between head injuries in professional football and a degenerative brain disease called chronic traumatic encephalopathy. The admission—which has been compared with Big Tobacco’s 1997 disclosure that smoking causes cancer—comes at a time when the dangers of less severe traumatic brain injuries (TBIs), including concussions, have also been making headlines. Scientists do not yet understand the biological mechanisms underlying the detrimental effects of TBI—and as a result, effective treatments remain elusive. In fact, how to deal with even a mild concussion is the subject of debate: Some doctors prescribe rest for several weeks whereas others claim this may have negative consequences and urge patients to stay active. Now it turns out that the type of rest patients get may be key. In a study on rats published this week in The Journal of Neuroscience a team of researchers at University Hospital Zurich (UHZ) found that enhancing the slow-wave cycle of sleep after a traumatic head injury preserves brain function and minimizes damage to axons, the long projections from neurons that send signals to other cells in the brain. Previous research has shown that TBIs cause axonal damage as well as the buildup of neurotoxic molecular waste products that result from injury. In the new study the researchers examined two different methods of inducing a slow-wave sleep state—the deepest sleep stage characterized by low-frequency, high-amplitude waves. During this stage, the brain clears out protein buildup, leading the researchers to question whether it could help treat rats that had suffered a brain injury. © 2016 Scientific American
Nicola Davis Suppressing bad memories from the past can block memory formation in the here and now, research suggests. The study could help to explain why those suffering from post-traumatic stress disorder (PTSD) and other psychological conditions often experience difficulty in remembering recent events, scientists say. Writing in Nature Communications, the authors describe how trying to forget past incidents by suppressing our recollections can create a “virtual lesion” in the brain that casts an “amnesiac shadow” over the formation of new memories. “If you are motivated to try to prevent yourself from reliving a flashback of that initial trauma, anything that you experience around the period of time of suppression tends to get sucked up into this black hole as well,” Dr Justin Hulbert, one of the study’s authors, told the Guardian. “I think it makes perfect sense because we know that people with a wide range of psychological problems have difficulties with their everyday memories for ordinary events,” said Professor Chris Brewin, an expert in PTSD from University College, London, who was not involved in the study. “Potentially this could account for the memory deficits we find in depression and other disorders too.” The phenomenon came to the attention of the scientists during a lecture when a student admitted to having suffered bouts of amnesia after witnessing the 1999 Columbine high school massacre. When the student returned to the school for classes after the incident she found she could not remember anything from the lessons she was in. “Here she was surrounded by all these reminders of these terrible things that she preferred not to think about,” said Hulbert. © 2016 Guardian News and Media Limited
By Victoria Sayo Turner Seasonal affective disorder was categorized under major depression to signify depression with a yearly recurrence, a condition far more debilitating than your average “winter blues.” Credit: ©iStock Around March, some of us take a kick at the snow mounded on the curb and wonder if spring is finally going to drop by. The sun sets before we go home, and the cold coops us up except for runs to the grocery store. All of this amounts to something known informally as the winter blues, because those wintry days and dead trees can put us in a glum mood. But in the 1980s, research at the National Institutes of Mental Health led to recognition of a form of depression known as seasonal affective disorder (shortened, of course, to SAD). Seasonal affective disorder was categorized under major depression to signify depression with a yearly recurrence, a condition far more debilitating than your average “winter blues.” Mention of SAD in research and books peaked in the 1990s, and today SAD is considered a diagnosable (and insurable) disorder. Treatment ranges from psychotherapy to antidepressants to light therapy — large boxes filled with lightbulbs that look like tanning beds for your face. However, a recent study questions the existence of seasonal depression entirely. Each year, the Centers for Disease Control conducts a large cross-sectional study of the US population. A group of researchers realized they could use the CDC results independently to investigate how much depression changes by season. The 2006 version of the CDC study included a set of questions typically used to screen for depression. By analyzing the answers gathered from 34,000 adults over the course of the year, the researchers might detect flareups of seasonal affective disorder. They might see wintertime surges in depression. “To be honest, we initially did not question the [SAD] diagnosis,” writes investigator Dr. Steven LoBello, the goal being “to determine the actual extent to which depression changes with the seasons.” © 2016 Scientific American
By HEATHER MURPHY Good morning. Or confusing morning, really. Come Daylight Saving Time each year, people often complain about how thrown off they feel by the shift of an hour. I thought they were just whiny. That is, until my dinosaur got jet lag and refused to glow. Since that’s not an everyday occurrence, let me explain the dinosaur first, and then I’ll get to how my dinosaur’s problems may be connected to your own struggles to function over the next few days. (Hint: It’s not only the loss of sleep that causes problems.) Created by a company called BioPop, my Dino Pet contains lots of itty bitty dinoflagellates. Dinoflagellates, if you are having trouble summoning a sixth-grade biology lesson, are usually ocean-dwelling, single-celled organisms also known as marine plankton. People typically encounter them when they clean the inside of their aquarium (this form is often referred “brown slime algae”) or if they happen to be kayaking through a bay filled with lots of bioluminescent ones. The ones that live in my plastic dinosaur (a Christmas gift) are the latter kind. Shake them just a bit and the transparent creatures become a glow-in-the-dark snow globe. Except that a week after I set my dinosaur up, it still refused to put on its shimmer show. I tried everything. I moved it from darker to lighter spots. I played it music and whispered encouraging words. But when I turned off the lights, my little dino remained depressingly dark. © 2016 The New York Times Company
Keyword: Biological Rhythms
Link ID: 21981 - Posted: 03.14.2016
By Jerome Siegel To say whether an animal sleeps requires that we define sleep. A generally accepted definition is that sleep is a state of greatly reduced responsiveness and movement that is homeostatically regulated, meaning that when it is prevented for a period of time, the lost time is made up—an effect known as sleep rebound. Unfortunately, the application of this definition is sometimes difficult. Can an animal sleep while it is moving and responsive? How unresponsive does an animal have to be? How much of the lost sleep has to be made up for it to be considered homeostatically regulated? Is the brain activity that characterizes sleep in humans necessary and sufficient to define sleep in other animals? Apart from mammals, birds are the only other animals known to engage in both slow-wave and rapid eye movement (REM) sleep. Slow-wave sleep, also called non-REM sleep, is characterized by slow, high-amplitude waves of electrical activity in the cortex and by slow, regular respiration and heart rate. During REM sleep, animals exhibit a waking-like pattern of cortical activity, as well as physiological changes including jerky eye twitches and increased variability of heart rate and respiration. (See “The A, B, Zzzzs.”) But many more animals, including some insects and fish, engage in behaviors that might be called sleep, such as resting with slow but regular respiration and heart rates and a desensitization to environmental stimuli. In addition to diversity in the neural and physiological correlates of sleep, species vary tremendously in the intensity, frequency, and duration of sleep. Some animals tend to nap intermittently throughout the day, while others, including humans, tend to consolidate their sleep into a single, long slumber. The big brown bat is the current sleep champion, registering 20 hours per day; giraffes and elephants doze less than four hours daily. © 1986-2016 The Scientist
By Kerry Grens On a closed-circuit television I watch Marie settle into her room, unpacking her toiletries in the bathroom and arranging her clothes for the next day. Her digs at the University of Chicago sleep lab look like an ordinary hotel room, with a bed, TV, desk, nightstand. Ordinary, except for the camera keeping watch from across the bed and the small metal door in the wall next to the headboard. The door, about one foot square, is used when researchers want to sample the study participants’ blood during the night without disturbing them; an IV line passes from the person’s arm through the door and into the master control room where I’m watching Marie on the screen. She’s come to the lab on a weekday evening to be screened for possible inclusion in a study on insomnia. Marie says her sleep problems started almost 20 years ago, on the first day of her job as a flight attendant. “The phone rang in the middle of the night,” she recalls. It was work, scheduling her for a flight. “Something was triggered in my mind. It was the first time in my life I experienced a night with no sleep. Something clicked. Then the second night I couldn’t sleep. It just went on. I lost my ability to sleep.” After a few years, Marie (not her real name—she asked to remain anonymous for privacy) stopped working. Most nights she’ll sleep for a short stretch—maybe a few hours—then wake up and lie awake for hours as pain in her neck consumes her and makes her uneasy and restless. “I’ve seen psychologists, physical therapists, doctors. I’ve been prescribed medications for depression. But it didn’t work,” she says. “Every single day it’s a struggle . . . I feel like when Job was attacked by the devil. Someone is trying to take my vitality away.” © 1986-2016 The Scientist
Link ID: 21959 - Posted: 03.07.2016
Ian Sample Science editor Too little sleep may bring on a form of the marijuana “munchies”, say scientists who found that sleep-deprived people craved crisps, sweets and biscuits far more than healthier foods. The US researchers believe that skimping on sleep alters brain chemicals in much the same way as the hunger-boosting ingredient in cannabis, which has long propped up snack sales at 24-hour convenience stores. After several nights of poor sleep, healthy volunteers who took part in the study reached for snacks containing more calories - and nearly twice as much fat - than ones they favoured after sleeping well for the same period, the scientists say. When sleepy, the participants had terrible trouble resisting the snacks, even when they were full, said Erin Hanlon, who led the study at the University of Chicago. Research has shown time and again that sleep loss raises the risk of obesity, but the reasons are complex and unclear. Insufficient sleep disrupts hormones that govern appetite and satiety. But those who sleep less have more time to eat, and may be too tired to exercise. To muddy the waters further, obesity can lead to breathing problems that themselves disrupt sleep patterns. In a small study published in the journal Sleep, Hanlon invited 14 men and women in their twenties to spend two four-day sessions at the university’s clinical research centre. The volunteers’ time in bed was controlled, so that on one visit they averaged 7.5 hours of sleep a night, but on the other only 4 hours 11 minutes a night. During their stays, the volunteers ate identical meals, dished out at 9am, 2pm and 7pm.
By Claire Asher A poor night's sleep is enough to put anyone in a bad mood, and although scientists have long suspected a link between mood and sleep, the molecular basis of this connection remained a mystery. Now, new research has found several rare genetic mutations on the same gene that definitively connect the two. Sleep goes hand-in-hand with mood. People suffering from depression and mania, for example, frequently have altered sleeping patterns, as do those with seasonal affective disorder (SAD). And although no one knows exactly how these changes come about, in SAD sufferers they are influenced by changes in light exposure, the brain’s time-keeping cue. But is mood affecting sleep, is sleep affecting mood, or is there a third factor influencing both? Although a number of tantalizing leads have linked the circadian clock to mood, there is “no definitive factor that proves causality or indicates the direction of the relationship,” says Michael McCarthy, a neurobiologist at the San Diego Veterans’ Affairs Medical Center and the University of California (UC), San Diego. To see whether they could establish a link between the circadian clock, sleep, and mood, scientists in the new study looked at the genetics of a family that suffers from abnormal sleep patterns and mood disorders, including SAD and something called advanced sleep phase, a condition in which people wake earlier and sleep earlier than normal. The scientists screened the family for mutations in key genes involved in the circadian clock, and identified two rare variants of the PERIOD3 (PER3) gene in members suffering from SAD and advanced sleep phase. “We found a genetic change in people who have both seasonal affective disorder and the morning lark trait” says lead researcher Ying-Hui Fu, a neuroscientist at UC San Francisco. When the team tested for these mutations in DNA samples from the general population, they found that they were extremely rare, appearing in less than 1% of samples. © 2016 American Association for the Advancement of Science.
Link ID: 21926 - Posted: 02.23.2016
Tina Hesman Saey Sonia Vallabh knows what will probably kill her. In 2011, the Boston-area law school graduate learned she carries the same genetic mutation that caused her mother’s death from a rare brain-wasting prion disease. Prions are twisted forms of normal brain proteins that clump together and destroy nerves. About 10 to 15 percent of prion diseases are caused by a mutation in the PRNP gene, leading to such deadly diseases as Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia, the disease that killed Vallabh’s mother. Grief, shared with family and friends, came first. Eventually, Vallabh realized, “We can’t get around this prognosis.… We’ve got to go through it.” So began her and husband Eric Minikel’s odyssey to learn about the disease that had turned their lives upside down. A scientist friend came by with a flash drive loaded with research papers about prion diseases. “We didn’t have the vocabulary” to understand the information, Vallabh says. So she took a sabbatical from her job to take biology and chemistry classes. Minikel kept writing transportation software, but attended night classes with his wife. Vallabh’s first foray into brain research was as a technician in a lab studying Huntington’s disease. During “science nights” at the couple’s home, scientist pals team-taught biology and biochemistry. The couple took the biggest step when Minikel left his consulting job and both enrolled in graduate school to study prion diseases. Prion proteins, some of which clump together or form fibrils, as in this E. coli bacteria, are often used to model how proteins misfold in some neurodegenerative disorders. © Society for Science & the Public 2000 - 2016