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By Nadja Popovich Eye-tracking has become the tech trend du jour. Advertisers use data on where you look and when to better capture your attention. Designers employ it to improve products. Game and phone developers utilize it to offer the latest in hands-free interaction. But eye-tracking can do more than help sell products or give your finger a rest while playing Fruit Ninja. Years of research have found that our tiny, rapid eye movements called saccades serve as a window into the brain for psychologists just as for advertisers—but instead of giving clues about our preferred cookie brands (pdf), they elucidate our inner mental functioning. The question is, can capturing such movements help clinicians make diagnoses of mental and neurological disorders, such as autism, attention-deficit hyperactivity disorder, Parkinson’s disease and more? For many researchers in this growing field, the outlook so far looks positive. “Visual scanning reflects a model of the world that exists inside the brain of each individual,” explains Moshe Eizenman, a leading eye-tracking researcher at the University of Toronto. “People with mental disorders have a model of the world that is slightly different than that of normal people—and by moving their eyes, they provide information about this different model.” Autistic children, for example, tend to avoid social images in favor of abstract ones, and they also more rarely and fleetingly make eye contact when looking at faces in an image or video in comparison with nonautistic kids. Similarly distinct, abnormal eye-movement patterns occur in a number of mental disorders, scientists have found. © 2013 Scientific American
Keyword: Autism
Link ID: 18291 - Posted: 06.20.2013
By Brian Bienkowski and Environmental Health News Women who live in areas with polluted air are up to twice as likely to have an autistic child than those living in communities with cleaner air, according to a new study published today. Building on two smaller, regional studies, the Harvard University research is the first to link air pollution nationwide with autism. It also is the first to suggest that baby boys may be more at risk for autism disorders when their mothers breathe polluted air during pregnancy. Babies born in areas of the United States with high airborne levels of mercury, diesel exhaust, lead, manganese, nickel and methylene chloride were more likely to have autism than those in areas with lower pollution. The strongest links were for diesel exhaust and mercury. “The striking similarity with our results and the previous studies adds a tremendous amount to the weight of evidence that pollutants in the air might be causing autism in children,” said Andrea Roberts, a research associate at the Harvard University School of Public Health and lead author of the new study published online in Environmental Health Perspectives. Scientists have been trying to figure out whether a variety of environmental exposures are linked to autism, a neurological disorder diagnosed in one out of every 50 U.S. children between the ages of 6 and 17. © 2013 Scientific American
Keyword: Autism
Link ID: 18290 - Posted: 06.20.2013
Buyer beware. For US$249 a company in the United States is promising to send curious and competitive players of computer games an unusual headset. The device, the company claims, will convert electronic gamers into electronic-gamers. At the touch of a button, the headset will send a surge of electricity through their prefrontal cortex. It promises to increase brain plasticity and make synapses fire faster, to help gamers repel more space invaders and raid more tombs. And, according to the publicity shots on the website, it comes in a choice of red or black. The company is accepting orders, but says that it will not ship its first headsets to customers until next month. Some are unwilling to wait. Videos on the Internet already show people who have cobbled together their own version with a 9-volt battery and some electrical wire. If you are not fussy about the colour scheme, other online firms already promise to supply the components and instructions you need to make your own. Or you could rummage around in the garage. That’s ‘could’ as in ‘you might be able to’, by the way; not ‘could’ as in ‘it’s a good idea’. In fact, to try to boost cognitive performance in this way might be a very bad idea indeed. Would it work? It might or it might not. Nobody knows. All we know for sure is that the technology, known as transcranial direct-current stimulation (tDCS), is likely to soon get into the hands, and onto the heads, of many more people. © 2013 Nature Publishing Group
Keyword: Learning & Memory
Link ID: 18289 - Posted: 06.20.2013
by Sue Langthorp Losing sleep doesn't just make us hazy and irritable. It can also lead to cardiovascular disease, type 2 diabetes, and a host of other conditions. But catching up on some shuteye may help combat these problems. According to a new study, sleep-deprived men who dozed an extra 2 to 3 hours on the weekend may reduce their risk of developing type 2 diabetes. Researchers led by Peter Liu, an endocrinologist at the Los Angeles Biomedical Research Institute at the Harbor-University of California, Los Angeles, Medical Center, recruited 19 men in good health who, due to their workload, were poor sleepers. The subjects, age 29 on average, had been clocking about 6 hours of shuteye on weeknights for just over 5 years. However, they made the most of their weekends and slept an extra 2.3 hours a night on Friday and Saturday. When selecting the candidates for the trial, the scientists verified their reported schedules using sleep actigraphs, devices worn like wrist watches that record sleep patterns. The men slept in the lab for three nights. Some were allowed to sleep 10 hours without interruption, catching up on the sleep that they had lost earlier in the week. Others slept 10 hours with frequent interruption, and still others slept 6 hours without interruption. All the subjects ate the same diet, so the researchers could normalize their insulin and sugar levels. © 2010 American Association for the Advancement of Science
By NICHOLAS BAKALAR Obesity in adolescents is associated with a range of cardiovascular and other health risks. Now a new study adds one more: hearing loss. Several studies have demonstrated the association of obesity with hearing loss in adults, but now researchers examining records of a nationwide sample of 1,488 boys and girls ages 12 to 19 have found the same association in teenagers. The study appeared online in The Laryngoscope. The researchers controlled for various factors, including poverty, sex, race and previous exposure to loud noises. They found that being at or above the 95th percentile for body mass index — the definition of obesity in teenagers — was independently associated with poorer hearing over all frequencies, and with almost double the risk of low-frequency hearing loss in one ear. They suggest that this may represent an early stage of injury that will later progress to both ears, as it does in adults. The reason for the connection is not known, but the scientists suggest that inflammation induced by obesity may be a factor in organ damage. “It’s quite possible that early intervention could arrest the progression,” said the lead author, Dr. Anil K. Lalwani, a professor of otolaryngology at Columbia University. “This is another reason to lose weight — but not to lose hope.” Copyright 2013 The New York Times Company
Keyword: Obesity; Hearing
Link ID: 18287 - Posted: 06.20.2013
Maggie Fox, NBC News Researchers have figured out how to read your mind and tell whether you are feeling sad, angry or disgusted – all by looking at a brain scan. The experiment, using 10 acting students, showed people have remarkably similar brain activity when experiencing the same emotions. And a computer could predict how someone was feeling just by looking at the scan. The findings could be used to help treat patients with various mental health conditions, and even provide a hard, medical diagnosis for emotional disorders. It might also be used to get a window into the minds of people with developmental disorders such as autism, the researchers at Carnegie Mellon University in Pittsburgh say. And one big, immediate application – testing advertisements. “What emotion do you want to evoke with your ad for the latest BMW?” said psychology professor Marcel Just, who helped oversee the study. "This research introduces a new method with potential to identify emotions without relying on people's ability to self-report," added Karim Kassam, assistant professor of social and decision sciences at CMU, who led the study. "It could be used to assess an individual's emotional response to almost any kind of stimulus, for example, a flag, a brand name or a political candidate."
Keyword: Emotions; Brain imaging
Link ID: 18286 - Posted: 06.20.2013
By Scicurious People who suffer from obsessive compulsive disorder (OCD) can’t help some of their actions. They suffer from severely intrusive thoughts and anxiety, which they know are not right. And they feel a compulsion to do rituals to get rid of them. Maybe it’s repetitive hand washing. Maybe it’s checking that the stove is off exactly 7 times each night. Whatever it is, the symptoms can cause severely interfere with their daily lives. What causes these compulsive, repetitive behaviors? We’re not sure, but today’s paper suggests a role of the circuit between the striatum and the orbitofrontal cortex, areas associated with impulsivity and repetitive behaviors. And it could be that increasing activity within certain parts of this circuit might help shut down some repetitive behaviors, giving us important insight into how repetitive behaviors work. I should begin by noting that Ed also covered this paper over at Not Exactly Rocket Science, along with another paper about making compulsive behaviors. It’s a really cool look at the two papers and you should definitely check it out! Me, I’m interested in the circuit involved here, and why stimulating one part may end up inhibiting behavior. The authors of this study started with a model of obsessive behavior, the SAPAP3 knockout mouse, which I actually wrote a bit about recently. This mouse has a knockout of a special protein associated with synapses. Without it, mice display obsessive (well, repetitive, we can’t really ask the mouse if they are obsessing) grooming behavior, grooming their faces so much that they will cause lesions to form. The authors wanted to look at what caused this behavior, and what could potentially stop it. © 2013 Scientific American
Keyword: OCD - Obsessive Compulsive Disorder
Link ID: 18285 - Posted: 06.18.2013
MONKEYS may have a primitive version of the human ability to put ourselves in another's shoes. Intelligent animals such as apes can intuit others' intentions, suggesting they have some theory of mind capability. But only humans can reason that others may not hold their own beliefs. To study this difference, Rogier Mars of the University of Oxford and colleagues scanned 36 people's brains. Using an algorithm, they created a map of how an area associated with theory of mind is connected to brain regions linked to abilities such as face recognition and interpretation. Next, the researchers scanned 12 macaque brains for a similar pattern of connections. An area involved in facial recognition had a similar pattern, suggesting involvement in abstract thought. That doesn't necessarily mean the structures share a function, Mars says. Theory of mind is probably a spectrum of ways of thinking, he says, and humans got better at it as they evolved. Laurie Santos of Yale University says the structural differences may one day tell us why non-human primates lack the ability to think about others' beliefs. © Copyright Reed Business Information Ltd.
Keyword: Attention; Brain imaging
Link ID: 18284 - Posted: 06.18.2013
by Emily Underwood Something odd happened when Shu Zhang was giving a presentation to her classmates at the Columbia Business School in New York City. Zhang, a Chinese native, spoke fluent English, yet in the middle of her talk, she glanced over at her Chinese professor and suddenly blurted out a word in Mandarin. "I meant to say a transition word like 'however,' but used the Chinese version instead," she says. "It really shocked me." Shortly afterward, Zhang teamed up with Columbia social psychologist Michael Morris and colleagues to figure out what had happened. In a new study, they show that reminders of one's homeland can hinder the ability to speak a new language. The findings could help explain why cultural immersion is the most effective way to learn a foreign tongue and why immigrants who settle within an ethnic enclave acculturate more slowly than those who surround themselves with friends from their new country. Previous studies have shown that cultural icons such as landmarks and celebrities act like "magnets of meaning," instantly activating a web of cultural associations in the mind and influencing our judgments and behavior, Morris says. In an earlier study, for example, he asked Chinese Americans to explain what was happening in a photograph of several fish, in which one fish swam slightly ahead of the others. Subjects first shown Chinese symbols, such as the Great Wall or a dragon, interpreted the fish as being chased. But individuals primed with American images of Marilyn Monroe or Superman, in contrast, tended to interpret the outlying fish as leading the others. This internally driven motivation is more typical of individualistic American values, some social psychologists say, whereas the more externally driven explanation of being pursued is more typical of Chinese culture. © 2010 American Association for the Advancement of Science.
Keyword: Language; Learning & Memory
Link ID: 18283 - Posted: 06.18.2013
By Brigid Schulte, Unlike the male pundits, politicians and even financiers who’ve opined freely recently about what they consider “natural” roles for mothers and fathers, with mom at home and dad at work, behavioral neuroscientist Kelly Lambert’s methodical approach has led her to a much more complicated conclusion. From her perch at Randolph-Macon College in rural Ashland, Va., Lambert has spent years designing elaborate experiments to test nurturing in both male and female rodents. She anesthetizes the animals, carefully removes their brains, firms the brains up with formalin, freezes them, then shaves them into slices thinner than a strand of human hair to study under a microscope. What Lambert’s rodent brain slices are revealing is nothing short of revolutionary, challenging the loud pundits and long-held cultural views that only mothers are wired for nurture. Lambert, one of a small but growing number of scientists who study the biology of father behavior, is finding that not just mothers experience surges of hormones associated with bonding and nurturing. The same hormones increase, though not to the same degree, in fathers. Rat mothers are not the only ones whose brains become sharper, making them more efficient foragers and more courageous and level-headed than females without offspring. Lambert has found that the same is true of fathers’ brains. Fatherhood makes the male California deer mouse smarter, too. © 1996-2013 The Washington Post
Keyword: Sexual Behavior; Hormones & Behavior
Link ID: 18282 - Posted: 06.17.2013
By Arielle Duhaime-Ross Rats don't usually come out into daylight, especially not on a busy morning in New York City. But there it was, head awkwardly jutting out in front of its body, swinging from side to side. What injured the creature, I have no idea, but its hind legs could no longer support its weight. The rat dragged them like a kid drags a garbage bag that parents have asked be taken out–reluctantly. The muscles in the front legs rippled as they propelled the body forward along the sidewalk. The rodent was surprisingly quick considering the injury. But its aimlessness suggested distress. Two girls, no more than 15 years old, spotted the wounded rat from about 10 feet away. They held each other close, squealing and giggling, inching toward the animal theatrically. Staring them down, I scowled. How could they not appreciate this creature’s suffering or be touched by its desperation? I looked on, saying nothing. In The Last Child in the Woods, journalist Richard Louv talks about "nature deficit disorder," something we urbanites have picked up over the last hundred years or so. He says that city-dwellers have become so disconnected from nature that they cannot process the harsh realities of the natural world, like the sight of an injured animal. But if those young women were suffering from urban disconnection, then why didn’t I—a city slicker through and through—react that way as well? What made me respond with empathy instead of disgust? Evolutionary theorists believe that many of our behaviors are adaptive in some way. "Empathy probably started out as a mechanism to improve maternal care," says Frans de Waal, a primatologist at Emory University and author of The Age of Empathy. "Mammalian mothers who were attentive to their young’s needs were more likely to rear successful offspring." © 2013 Scientific American
Keyword: Emotions; Evolution
Link ID: 18281 - Posted: 06.17.2013
By JANE E. BRODY Think you do just fine on five or six hours of shut-eye? Chances are, you are among the many millions who unwittingly shortchange themselves on sleep. Research shows that most people require seven or eight hours of sleep to function optimally. Failing to get enough sleep night after night can compromise your health and may even shorten your life. From infancy to old age, the effects of inadequate sleep can profoundly affect memory, learning, creativity, productivity and emotional stability, as well as your physical health. According to sleep specialists at the University of Pittsburgh School of Medicine and Western Psychiatric Institute and Clinic, among others, a number of bodily systems are negatively affected by inadequate sleep: the heart, lungs and kidneys; appetite, metabolism and weight control; immune function and disease resistance; sensitivity to pain; reaction time; mood; and brain function. Poor sleep is also a risk factor for depression and substance abuse, especially among people with post-traumatic stress disorder, according to Anne Germain, associate professor of psychiatry at the University of Pittsburgh. People with PTSD tend to relive their trauma when they try to sleep, which keeps their brains in a heightened state of alertness. Dr. Germain is studying what happens in the brains of sleeping veterans with PTSD in hopes of developing more effective treatments for them and for people with lesser degrees of stress that interfere with a good night’s sleep. Copyright 2013 The New York Times Company
Keyword: Sleep
Link ID: 18280 - Posted: 06.17.2013
By Roland Pease BBC News "I'm a neuroengineer, and one of my goals is building brains." Prof Steven Potter was disarmingly understated as he introduced himself. It's not that tissue engineering is unusual. Nor even that doing it with neural cells should be an issue. If heart cells or skin cells can be reprogrammed, why not neurons? But "building brains" had been my flip way of labelling an intriguing, indeed unnerving, branch of science: the neurophysiology of disembodied brain-cell cultures. It was not a term I was expecting a serious scientist to turn to, as I set out on making "Build Me a Brain" for BBC Radio 4's Frontiers Programme. Yet Steven Potter, professor in the department of biomedical engineering at the Georgia Institute of Technology in the US, is insistent that words like "brain" and "mind" belong to his endeavour. "One of the ways in which I differ from a lot of neuroscientists is to believe that there's a spectrum of minds. There isn't some point where the mind suddenly is there," he said. "I think that there is a different amount of mind in different animals. And even in you, whether you've had your coffee or not, whether you're asleep or awake. "There are always different levels of how much mind you have. So you could carry it all the way down to the cultured network, there is still some sort of proto-mind in there." BBC © 2013
Keyword: Brain imaging; Development of the Brain
Link ID: 18279 - Posted: 06.15.2013
By Rachel Nuwer Doctors and nutritionists have long associated the Mediterranean diet with human health benefits, including a lower risk of Alzheimer's disease. A recent study of 1,880 elderly people living in New York City, for example, showed that those who strongly adhered to a Mediterranean diet over the study's 14-year span had a 32 to 40 percent lower incidence of Alzheimer's compared with those who did not. Extra virgin olive oil seems to be one of the main factors behind this risk reduction. People adhering to a Mediterranean diet consume up to 50 milliliters (around one fifth of a cup) of the fragrant green liquid a day. Previously, researchers assumed this benefit came from extra virgin olive oil's high concentration of monounsaturated fatty acids. But in 2005 scientists discovered that oleocanthal—the naturally occurring compound that elicits a peppery, burning sensation in the back of the throat—seemed to produce effects strikingly similar to those of ibuprofen, which tamps down inflammation. Since then, investigators have turned their attention to the potential benefits of this particular compound. Some studies have shown that oleocanthal interferes with the formation of characteristic neurofibrillary tangles and beta-amyloid plaques, both of which play principal roles in Alzheimer's neurological devastation. Research published online in ACS Chemical Neuroscience in February offers new details on how the compound works. The study authors applied different concentrations of oleocanthal over three days to mouse brain cell cultures. They also administered oleocanthal to live mice—the first time such an experiment has been done—every day for two weeks. In both trials, levels of two proteins that play major roles in transporting beta-amyloid out of the brain as well as enzymes that degrade beta-amyloid increased significantly after administering oleocanthal. © 2013 Scientific American
Keyword: Alzheimers
Link ID: 18278 - Posted: 06.15.2013
Robert Bazell NBC News Just two years ago, Barbara Whitmarsh was a woman who seemed to have it all. She was a highly regarded scientist at the National Institutes of Health. Married for 30 years, she’d raised six children with her beloved husband, John. But then John Whitmarsh started to notice some disturbing changes in his wife, now 62. It was as if the woman he’d married and lived with all that time was slowly and inexorably fading away. “Her ability to feel empathy, her personality, it just disappeared over a period of time,” John said. “I would ask her, ‘Is there anything wrong?’ and she would say, ‘No, I love you and everything's fine,’ but she wasn't there. And she said it in that flat way.” A scientist himself, Whitmarsh knew there was, indeed, something wrong. And he was worried. He asked his wife to see a psychiatrist who eventually diagnosed her with frontotemporal dementia or FTD. It’s a dementia that generally strikes at an earlier age than Alzheimer’s disease. And its symptoms are different – at least in the beginning – from Alzheimer’s because it originates in a different part of the brain. It’s also a disease that until very recently doctors thought was rare -- but that view is changing. “We've begun to realize that frontotemporal dementia is actually more common than Alzheimer's disease in people with degenerative disorders under the age of 60,” said Dr. Bruce Miller, director of the Memory and Aging Center at the University of California, San Francisco.
Keyword: Alzheimers
Link ID: 18277 - Posted: 06.15.2013
By Bruce Bower To a cacophony of boos, so-whats and even a few cheers, the American Psychiatric Association released the fifth edition of its Diagnostic and Statistical Manual of Mental Disorders, DSM-5, on May 18 at its annual meeting in San Francisco. Controversy always flares when psychiatrists redefine which forms of human suffering will count as real and reimbursable by medical insurance. This time, though, the stakes are raised by competing efforts to classify mental disorders. The World Health Organization plans to release a new version of its own system for identifying mental ailments in 2015 as part of the 11th edition of the International Classification of Diseases. It’s not clear how much the ICD will mirror DSM-5. Some differences have already emerged. Clinicians working on the international classification report in the May 11 Lancet that they plan to pare down the number and types of symptoms needed to diagnose post-traumatic stress disorder, or PTSD, and add a severe form of the condition triggered by long-lasting or frequent harrowing events. These departures from DSM-5 would make it easier for mental health workers to help victims of conflict and natural disasters in poor, non-Western countries, say psychologist Andreas Maercker of the University of Zurich and his colleagues. Meanwhile, the National Institute of Mental Health in Rockville, Md., has launched the Research Domain Criteria, or RDoC, a 10-year effort to define mental disorders based on behavioral and brain measures. DSM’s approach, by contrast, relies on rulings by groups of psychiatrists about which symptoms characterize particular disorders. The approach has yielded imprecise diagnostic labels that advance neither treatment nor research, argued psychiatrist and NIMH director Thomas Insel in an April 29 blog post. © Society for Science & the Public 2000 - 2013
Keyword: Depression; Schizophrenia
Link ID: 18276 - Posted: 06.15.2013
by Jennifer Couzin-Frankel Publish your data, or else we will—that's the stark warning to drug companies in a new proposal released today. Peter Doshi (shown right), a postdoctoral fellow at Johns Hopkins University in Baltimore, Maryland, and his colleagues are fed up that only about half of all clinical trials are published. They want to change that, by convincing researchers and journals to print data that have been publicly released through other means, such as litigation and Freedom of Information Act requests, but, practically speaking, are sitting dormant in the filing cabinets or computers of individual scientists. The unusual proposal is called RIAT, for Restoring Invisible and Abandoned Trials. It was published today in BMJ and also endorsed by PLOS Medicine. Doshi, who studies comparative effectiveness research, came up with the idea when his colleague, Swaroop Vedula, was analyzing reporting biases involving the drug gabapentin. Gabapentin's maker Pfizer had been sued for the way in which they marketed the drug for unapproved indications. During litigation, Pfizer had released thousands of pages involving gabapentin trials, and Vedula was poring through them. (One of the authors of the RIAT paper, Kay Dickersin, served as an expert witness against Pfizer in gabapentin litigation.) Pfizer had published only 12 of its 20 trials in gabapentin. But Doshi's center at Hopkins had the clinical study reports detailing the results of the other eight. At the time, "it just hits me," Doshi says. "Why are we still referring to these as unpublished trials? Why aren't we publishing them ourselves?" © 2010 American Association for the Advancement of Science
Keyword: Depression; Schizophrenia
Link ID: 18275 - Posted: 06.15.2013
Published by scicurious What do the overconsumption of food and Obsessive-Compulsive Disorder (OCD) have in common? At first, this sounds like a trick question. But deep in the brain, the molecules underlying our behavior may come together for these two conditions. The first is MC4R, a receptor for melanocortin. It binds hormones and affects feeding behavior, mutations in MC4R are associated with severe overcomsumption of high fat, high calorie foods and with obesity. A mouse without an MC4R gene will become severely obese compared to its wildtype counterparts. SAPAP3 is a protein that is associated with synapses, the spaces between neurons. It can regulate things like receptor levels that determine how well a neuron responds to excitatory input. But a knockout of SAPAP3 in mice produces something very different: severe overgrooming, a model of OCD. All rodents groom themselves, it's necessary to keep clean. But SAPAP3 knockouts groom themselves far, far too much, to the point of creating terrible lesions on their skin. This has been proposed as a model of OCD, as many people with OCD become obsessed with cleanliness, and will do things like, say, washing their hands, to the point of severely damaging their skin. So a knockout of MC4R creates obese mice. A knockout of SAPAP3 creates overgrooming mice. You might think that if you combined the two knockouts, you would get severely obese mice that also overgroomed. But you don't. Instead, you get mice that, to all appearances, seem completely normal. No obesity. No overgrooming. Neurotic Physiology Copyright © 2013
Keyword: Obesity; OCD - Obsessive Compulsive Disorder
Link ID: 18274 - Posted: 06.15.2013
By E. Paul Zehr As an infant, the Man Of Steel escaped Krypton’s red sun in a rocket lovingly prepared for him by his parents. Kal-L (but more commonly known as Kal-El) arrived under our yellow sun in Smallville to eventually become Clark Kent. Since his debut in Action Comics #1 in June of 1938, Superman has accumulated a pretty long list of “super abilities”. For me, though, I really like the list of his abilities that come from the 1940s radio serials. This was back when Superman was described as “faster than a speeding bullet, more powerful than a locomotive, and able to leap tall buildings in a single bound”. These descriptions all have to do with super-strength when you get right down to it. And with this summer’s “Man of Steel” Superman re-boot, super-strength is the focus of this post. I have to admit I’ve always found the explanation for Superman’s powers to be, well, a bit dubious. He has his powers because of our yellow sun. That is, because he was from a red sun planet (Krypton) somehow the yellow sun of Earth unleashes some inner super power mechanism that gives Superman all his…super-ness. Of course it’s a bit pure escapist fun. But what if there actually was something to that, though? I don’t mean something to the “yellow sun / red sun” stuff. You can just check in with our “friendly neighborhood physics” professor Jim Kakalios and his bok “Physics of Superheroes” for the real deal on that one. I mean rather the unleashing of some inner mechanism bit. What if something inside the human body could be unleashed—like removing the shackles from Hercules—and allow for dramatically increased strength? © 2013 Scientific American
Keyword: Muscles; Genes & Behavior
Link ID: 18273 - Posted: 06.15.2013
by Trisha Gura A rare genetic disease may be going to the dogs. About six in 100,000 babies are born with centronuclear myopathy, which weakens skeletal muscles so severely that children have trouble eating and breathing and often die before age 18. Now, by discovering a very similar condition in canines, researchers have a means to diagnose the disease, unravel its molecular intricacies, and target new therapies. The story began when Jocelyn Laporte, a geneticist at the Institute of Genetics and Molecular and Cellular Biology in Strasbourg, France, uncovered the genetic roots of an odd form of centronuclear myopathy that showed up in a Turkish family. Three children, two of them fraternal twins, were born normal. Then, at the age of 3-and-a-half, they grew progressively and rapidly ill. (Most forms of the illness do not come on so suddenly.) The twins died by the age of 9. Their younger brother recently reached the same age but is very ill. Investigators traced the problem to a mutation in a gene called BIN1, which makes a protein that helps shape the muscle so that it can respond to nerve signals that initiate muscle contraction. To find out how mutations in this gene could lead to such dire consequences, other researchers tried to genetically engineer mice models. But deleting the BIN1 gene failed to recreate the disease in mice, so the researchers had to look elsewhere. Laporte's team joined with geneticist and veterinarian Laurent Tiret, at the Alfort School of Veterinary Medicine in Paris, to tap a network of vets in the United States, United Kingdom, Canada, Australia, and France. The idea was to track down and analyze dogs that had spontaneously acquired a similar condition. Because of their longer lifespans and larger size, the canines could model how the disease progresses and might respond to new therapies. © 2010 American Association for the Advancement of Science
Keyword: Muscles; Movement Disorders
Link ID: 18272 - Posted: 06.15.2013