By Diana Kwon When Cynthia Bulik started studying eating disorders back in the early 1980s, what she read in the scientific literature clashed with what she saw in the clinic. At the time, theories about the causes of these conditions were focused primarily on explanations based on family dynamics and sociocultural factors. These descriptions could not explain how, despite dangerously low body weights, patients with eating disorders were often “hyperactive and said they felt well, and only started feeling poorly when we nourished them,” says Bulik, who is currently a professor at both the University of North Carolina and the Karolinska Institute in Sweden. “I became convinced that there had to be something biological going on.” Since then, a growing body of research has confirmed Bulik’s observations. Cases of individuals developing rapid alterations in eating behaviors after various infections—the first of which emerged nearly a century ago—have built up over decades. For example, symptoms of eating disorders often occur in pediatric acute-onset neuropsychiatric syndrome (PANS), a condition in which children experience sudden behavioral changes, typically after a streptococcal infection. In addition, over the last few years, several large-scale epidemiological investigations based on data from population registers in Scandinavia—compiled by Bulik and others—have linked eating disorders and autoimmune diseases, including Crohn’s, celiac and type 1 diabetes. © 2019 Scientific American

Keyword: Anorexia & Bulimia; Neuroimmunology
Link ID: 26222 - Posted: 05.09.2019

By: Michael Miller, M.D. W e’ve known for decades that smoking, hypertension, high cholesterol, and diabetes account for most cardiovascular problems. But it wasn’t until publication of the Interheart study (25,000 volunteers spanning 52 countries) that emotional stress was identified as another key risk factor, accounting for about one-third of heart attacks and strokes. Previously, in the 1970s, when volunteers were asked to begin to count to 100 and then to serially subtract seven’s in quick succession (in a test of “mental stress”), blood vessels constricted as if they had taken and failed a cardiac stress test. Except in these cases, testing occurred at rest. In other words, external stressors that are not effectively managed have direct internal implications by placing undue stress on the heart. Fast forward from the 1970s to the present era, and a recent study of more than 135,000 men and women in Sweden that found a history of stress-related disorders, such as post-traumatic stress syndrome, increased the risk of cardiovascular disease by more than 60 percent within just the first year of diagnosis. Mechanistically, the underlying cause of a heart attack is a sudden rupture of an unstable plaque within a coronary artery. During stressful situations, the “fight-or-flight” response jumps into full gear, releasing biochemical compounds such as adrenaline, which raises heart rate and blood pressure, and signals platelets to release a chemical, neuropeptide Y, that can cause spasm and transient occlusion of the coronary artery. © 2019 The Dana Foundation

Keyword: Stress; Emotions
Link ID: 26221 - Posted: 05.09.2019

By Daniel Barron It’s 3 P.M. on a Saturday in March, and I’m working at Silver Hill Hospital. As the on-duty doctor, my job is to admit new patients and to work with the other staff to make sure that everything goes smoothly. I’m about to see a young patient I’ll call Adrian* I glance in the glass-paned waiting room and notice Adrian sitting on the sofa. Their parents are also in the room (I’m using gender-neutral names pronouns for the patients in this essay, as the author’s note at the bottom explains), standing with concerned looks on their faces. A few minutes later, I meet with Adrian, who turns out to be a pleasant college student. They’ve been feeling anxious and depressed and, in addition to worsening paranoid thoughts, is thinking about suicide. Each patient is uniquely complex. I have never seen two identical patients: even within the same family, even among twins, patients are unique. Each patient’s history and symptoms, brain and genes, hopes and fears differ, which is one reason why psychiatry is so difficult. I need to figure out how to help Adrian. To do this, I need to reduce their complexity into something cognitively manageable, into something I can understand. The way I (and all clinicians) do this is to look for patterns: common symptoms and trends that help me understand what’s going on and suggest a type of treatment. © 2019 Scientific American

Keyword: Depression; Schizophrenia
Link ID: 26220 - Posted: 05.09.2019

Esther Honig Denver voters narrowly approved a grassroots ballot initiative to decriminalize psilocybin mushrooms, commonly referred to as psychedelic mushrooms. What appeared to be a failed effort on the evening of Tuesday's referendum made an unexpected comeback the following afternoon, when Denver election officials released the final count. It showed a slim majority of 50.56% voted in favor of ordinance 301. The action doesn't legalize psilocybin mushrooms, but effectively bars the city from criminally prosecuting or arresting adults 21 or older who possess them. In the ballot language, adults can even grow the fungus for personal use and be considered a low priority for Denver police. The changes could take effect as soon as next year. What happened in Denver may be the start of a much larger movement, which seeks safe access to psilocybin for its purported medicinal value. Supporters point to research, suggesting psilocybin is not addictive and causes few ER visits compared to other illegal drugs. Ongoing medical research shows it could be a groundbreaking medicine for treatment-resistant depression and to help curb nicotine addiction. In Iowa, a Republican lawmaker recently proposed two bills to remove the drug from the state's list of controlled substances. And in Oregon and California, campaigns are working to get similar issues on the ballot for the 2020 elections. © 2019 npr

Keyword: Drug Abuse
Link ID: 26219 - Posted: 05.09.2019

By Dana G. Smith Training software that emulates brain networks to identify dog breeds or sports equipment is by now old news. But getting such an AI network to learn a process on its own that is innate to early child development is truly novel. In a paper published Wednesday in Science Advances, a neural network distinguished between different quantities of things, even though it was never taught what a number is. The neural net reprised a cognitive skill innate to human babies, monkeys and crows, among others. Without any training, it suddenly could tell the difference between larger and smaller amounts—a skill called numerosity, or number sense. Many believe number sense is an essential precursor to our ability to count and do more complex mathematics. But questions have persisted about how this ability spontaneously comes about in the young brain. To research its development, scientists from the University of Tübingen in Germany used a deep-learning system designed to mimic the human brain to see if numerosity would emerge without having to train the software. “We were trying to simulate the workings of the visual system of our brain by building a deep-learning network, an artificial neural network,” says Andreas Nieder, a professor in the Institute of Neurobiology at Tübingen and senior author on the new paper. “The big question was, how is it possible that our brain and the brain of animals can spontaneously represent the number of items in a visual scene?” © 2019 Scientific American

Keyword: Learning & Memory; Development of the Brain
Link ID: 26218 - Posted: 05.09.2019

By Meredith Wadman The data behind the promising trial of a drug that blocks the production of a mutant protein that causes brain damage in people with Huntington disease—an inherited and ultimately fatal neurological disorder—were published today in The New England Journal of Medicine, giving an official imprimatur to news that first electrified the community of patients with the disease 17 months ago. The results, originally announced in December 2017, were published alongside an editorial that called the trial “pathbreaking.” The new paper reports that the drug, a short stretch of synthetic DNA called HTTRx that blocks the production of the mutant protein huntingtin, is safe in humans; no serious adverse events were reported by the 46 people who participated in the trial. (Last summer, Science wrote in depth about the first participant, Michelle Dardengo.) The results also provide details behind the source of excitement about the trial: that HTTRx reduced levels of huntingtin in the cerebrospinal fluid (CSF) that bathes the spinal cord—a proxy, it is hoped, for what is happening in the brain—by amounts that had reversed Huntington-like motor and cognitive symptoms in mice. And the reductions in the mutant protein in the CSF of patients were dose-dependent: Through a range of dosing levels, the bigger the dose, the more the reduction of the mutant protein. © 2019 American Association for the Advancement of Science

Keyword: Huntingtons; Prions
Link ID: 26217 - Posted: 05.07.2019

By Veronique Greenwood You’re holed up with colleagues in a meeting room for two hours, hashing out a plan. Risks are weighed, decisions are made. Then, as you emerge, you realize it was much, much warmer and stuffier in there than in the rest of the office. Small rooms can build up heat and carbon dioxide from our breath — as well as other substances — to an extent that might surprise you. And as it happens, a small body of evidence suggests that when it comes to decision making, indoor air may matter more than we have realized. At least eight studies in the last seven years have looked at what happens specifically in a room accumulating carbon dioxide, a main ingredient in our exhalations. While the results are inconsistent, they are also intriguing. They suggest that while the kinds of air pollution known to cause cancer and asthma remain much more pressing as public health concerns, there may also be pollutants whose most detrimental effects are on the mind, rather than the body. So can you trust the decisions made in small rooms? How much does the quality of air indoors affect your cognitive abilities? And as our knowledge of indoor air’s effects grows, do we need to revise how we design and use our buildings? Buildings in the United States have grown better sealed in the last 50 years, helping reduce energy used in heating and cooling. That’s also made it easier for gasses and other substances released by humans and our belongings to build up inside. Although indoor air quality is not as well monitored as the air outdoors, scientists and ventilation professionals have extensively monitored carbon dioxide indoors. © 2019 The New York Times Company

Keyword: Learning & Memory
Link ID: 26216 - Posted: 05.07.2019

/ By Elizabeth Svoboda As he neared his 50s, Anthony Andrews realized that living inside his own head felt different than it used to. The signs were subtle at first. “My wife started noticing that I wasn’t getting through things,” Andrews says. Every so often, he’d experience what he calls “cognitive voids,” where he’d get dizzy and blank out for a few seconds. It wasn’t just that he would lose track of things, as if the thought bubble over his head had popped. Over time, Andrews’ issues became more pronounced. It wasn’t just that he would lose track of things, as if the thought bubble over his head had popped. A dense calm had descended on him like a weighted blanket. “I felt like I was walking through the swamp,” says Andrews, now 54. He had to play internet chess each morning to penetrate the mental murk. In 2016, Anthony Andrews and his wife Mona were told he likely had CTE, a neurodegenerative disorder caused by repeated head impacts. With his wife, Mona, by his side, Andrews went to doctor after doctor racking up psychiatric diagnoses. One told him he had ADHD. Another thought he was depressed, and another said he had bipolar disorder. But the drugs and therapies they prescribed didn’t seem to help. “After a month,” Andrews recalls of these treatments, “I knew it’s not for me.” Copyright 2019 Undark

Keyword: Learning & Memory; Brain Injury/Concussion
Link ID: 26215 - Posted: 05.07.2019

Richard Harris Scientists who recently announced an experimental genetic test that can help predict obesity got immediate pushback from other researchers, who wonder whether it is really useful. The story behind this back-and-forth is, at its core, a question of when it's worth diving deep into DNA databanks when there's no obvious way to put that information into use. The basic facts are not in dispute. Human behavior and our obesity-promoting environment have led to a surge in this condition over the past few decades. Today about 40% of American adults are obese and even more are overweight. But genetics also plays an important role. People inherit genes that make them more or less likely to become seriously overweight. While some diseases (like Huntington's and Tay-Sachs) are caused by a single gene gone awry, that's certainly not the case for common conditions, including obesity. Instead, untold thousands of genes apparently play a role in increasing obesity risk. Many of those gene variants contribute a miniscule risk. Sekar Kathiresan, a cardiologist at Harvard and a geneticist at the Broad Institute, set out to see whether he and his team could find a bunch of these genetic variants and add up their effects. The goal was to identify genetic patterns that put people at the highest risk. This genetic information "could explain why somebody's so big, why they have so much trouble keeping their weight down," Kathiresan says. His team identified more than 2 million DNA variants of potential interest. He figures most of those variants are irrelevant, but his hunch is, hidden somewhere in there are a few thousand changes that each contribute at least a tiny bit to a person's risk of developing obesity. © 2019 npr

Keyword: Obesity; Genes & Behavior
Link ID: 26214 - Posted: 05.07.2019

By Emilie Le Beau Lucchesi In 1945, Dorothy Still, a nurse in the United States Navy, met with a Navy psychiatrist to discuss disturbing symptoms she had been experiencing. Miss Still was one of 12 Navy nurses who had been held prisoner of war by the Japanese military in the occupied Philippines during World War II. For more than three years, Miss Still and the other nurses had provided care to diseased, starving and destitute civilian inmates in a makeshift infirmary at the P.O.W. camp. In the months after liberation, Miss Still found she often cried without provocation and had trouble stopping her tears. She most likely suffered from what today we could call post-traumatic stress disorder, but the Navy psychiatrist offered no support or solutions. Instead, he called her a “fake” and a “liar.” Nurses, he claimed could not suffer the kind of shell shock from war that sailors or soldiers could. Mental health experts now recognize that PTSD can indeed affect nurses, both military and civilian. As many as 28 percent of nurses experience PTSD at some point in their careers, said Meredith Mealer, an associate professor at the Anschutz Medical Campus at the University of Colorado, Denver, though health care providers still often struggle to treat it. “It’s probably improved from Dorothy’s experience, but we still have a ways to go,” Dr. Meal. PTSD, as defined by the DSM-5, the psychiatric professions’ official manual of mental health disorders, can arise after a person has been exposed to a traumatic event, typically involving or threatening death, injury or sexual violence. Someone might experience the trauma first-hand or witness it happening to someone else, learn it happened to a loved one or repeatedly hear details about a violent event. The result can be intrusive symptoms such as unwanted memories, nightmares, flashbacks and overwhelming feelings of stress when exposed to reminders of the event. © 2019 The New York Times Company

Keyword: Stress
Link ID: 26213 - Posted: 05.07.2019

By John Horgan Last month my school, Stevens Institute of Technology, hosted a “debate” called “Souls or Selfish Genes?” The Stevens Christian Fellowship, which organized the event (along with Veritas), billed it as “a discussion between two professors (a Christian and non-Christian) in search of truth about what makes us human.” I was the non-Christian and David Lahti, a biologist at City University of New York, the Christian. The moderator and most of the audience (according to a show of hands) were Christian too. Lahti and I had a hard time finding things on which to disagree. I nodded along when he objected to the “souls or selfish genes” dichotomy, arguing that faith and evolutionary theory are compatible. I didn’t oppose religious belief so much as I defended disbelief, toward scientific as well as religious explanations of who we are. Below are things I said, or wanted to say, at the event. For as long as I can remember, the world has struck me as improbable, inexplicable, just plain weird. I have felt estranged from everything, including other people and myself. Psychiatrists call these feelings derealization and depersonalization. I yearned for a revelation that could dispel the weirdness and make me feel at home in my own skin. As a boy I took comfort in my parents’ religion, Catholicism. Priests, nuns and my parents assured me that I am a child of God with an immortal soul. If I obey the Ten Commandments, confess my sins and go to church, I will ascend to heaven, where I will hang out with God, Jesus and the Holy Spirit (which a mural in my church depicted as a dove emanating laser beams). By the time I was 11 or so Catholicism stopped making sense. Why, if God loves us, would He inflict hell on us, just for skipping mass now and then? That doctrine, which hard-eyed nuns taught in catechism, seemed awfully harsh. Also, I couldn’t imagine how heaven could fail to be boring. © 2019 Scientific American

Keyword: Consciousness
Link ID: 26212 - Posted: 05.07.2019

Bruce Bower A leather bag stuffed with ritual items, found high in the Andes Mountains, has yielded rare clues to South American shamans’ hallucinatory visions around 1,000 years ago. One artifact in the radiocarbon-dated bag, a pouch stitched out of three fox snouts, contains chemical traces of five mind-altering substances obtained from at least three plants, say bioarchaeologist Melanie Miller of the University of Otago in Dunedin, New Zealand and her colleagues. Chemical residues include two primary ingredients of ayahuasca, a vision-inducing concoction still used by ritual specialists in native South American communities, the scientists report online the week of May 6 in the Proceedings of the National Academy of Sciences. Cocaine residue suggests that the fox pouch also held coca leaves. The researchers found the ancient ritual bundle in a Bolivian rock-shelter called Cueva del Chileno. Along with the fox pouch, the leather bag contained two carved wooden tablets used for snorting, or snuffing, powdered substances, a carved snuffing tube, a pair of llama-bone spatulas, a woven band thought to be a headband and two dried plant fragments tied to wool and fiber strings. Objects in the bag show influences of an ancient Andean society called Tiwanaku (SN Online: 8/24/15), the researchers say. As in many ancient Andean and Amazonian cultures, Tiwanaku shamans entered altered mental and physical states to communicate with revered ancestors and supernatural beings. |© Society for Science & the Public 2000 - 2019

Keyword: Drug Abuse
Link ID: 26211 - Posted: 05.07.2019

Hattie Garlick Rosie has just returned from the school run. She drops a bag of groceries on to her kitchen table, and reaches for a clear plastic cup, covered by a white hanky and sealed with a hairband. Inside is a grey powder; her finely ground homegrown magic mushrooms. “I’ll take a very small dose, every three or four days,” she says, weighing out a thumbnail of powder on digital jewellery scales, purchased for their precision. “People take well over a gram recreationally. I weigh out about 0.12g and then just swallow it, like any food. It gives me an alertness, an assurance. I move from a place of anxiety to a normal state of confidence, not overconfidence.” Over the last 12 months, I have been hearing the same story from a small but increasing number of women. At parties and even at the school gates, they have told me about a new secret weapon that is boosting their productivity at work, improving their parenting and enhancing their relationships. Not clean-eating or mindfulness but microdosing – taking doses of psychedelic drugs so tiny they are considered to be “subperceptual”. In other words, says Rosie: “You don’t feel high, just… better.” It’s a trend that first emerged in San Francisco less than a decade ago. Unlike the hippies who flocked to the city in the 60s, these new evangelists of psychedelic drugs were not seeking oblivion. Quite the opposite. While a “full” tripping dose of LSD is about 100 micrograms, online forums began to buzz with ambitious tech workers from Silicon Valley eulogising the effect of taking 10 to 20 micrograms every few days. Others used magic mushrooms. While both drugs are illegal in the US and the UK, increasing numbers claimed that tiny amounts were making them more focused, creative and productive. © 2019 Guardian News & Media Limited

Keyword: Depression; Drug Abuse
Link ID: 26210 - Posted: 05.04.2019

By Gabrielle Emanuel and Katie Thomas BOSTON — A federal jury on Thursday found the top executives of Insys Therapeutics, a company that sold a fentanyl-based painkiller, guilty of racketeering charges in a rare criminal prosecution that blamed corporate officials for contributing to the nation’s opioid epidemic. The jury, after deliberating for 15 days, issued guilty verdicts against the company’s founder, the onetime billionaire John Kapoor, and four former executives, finding they had conspired to fuel sales of its highly potent drug, Subsys, by not only bribing doctors to prescribe their product but also by misleading insurers about patients’ need for the drug. The verdict against Insys executives is a sign of the accelerating effort to hold pharmaceutical and drug distribution companies and their executives and owners accountable in ways commensurate with the devastation wrought by the prescription opioid crisis. More than 200,000 people have overdosed on such drugs in the past two decades. Federal authorities last month for the first time filed felony drug trafficking charges against a major pharmaceutical distributor, Rochester Drug Cooperative, and two former executives, accusing them of shipping tens of millions of oxycodone pills and fentanyl products to pharmacies that were distributing drugs illegally. And the state attorneys general of Massachusetts and New York have recently sued not just Purdue Pharma, the maker of OxyContin, but also members of the Sackler family who own the company — and who have largely escaped personal legal penalties for the company’s role in the epidemic, culpability they deny. © 2019 The New York Times Company

Keyword: Drug Abuse; Pain & Touch
Link ID: 26209 - Posted: 05.04.2019

Jon Hamilton Scientists are setting a new course in their quest to treat Alzheimer's disease. The shift comes out of necessity. A series of expensive failures with experimental drugs aimed at a toxic protein called amyloid-beta have led to a change in approach. The most recent disappointment came in March, when drugmaker Biogen and its partner Eisai announced they were halting two large clinical trials of an amyloid drug called aducanumab. "It was like being punched in the stomach," says Phil Gutis, 57, an Alzheimer's patient in one of the trials. "Participating in this trial, it gave me hope for the future." Gutis, who once was a reporter for The New York Times and worked as an advocate at the American Civil Liberties Union, had hoped the experimental drug would preserve some of his remaining memories. "I'm just being erased," he says. The day before the aducanumab trial ended, Gutis had been leafing through pictures of his dog, Abe, a Jack Russell terrier who died last year. He was trying to remember the companion who'd shared his life for 12 years. © 2019 npr

Keyword: Alzheimers
Link ID: 26208 - Posted: 05.04.2019

By James Gallagher Health and science correspondent, BBC News Dementia is the greatest health challenge of our time, the charity Alzheimer's Research UK has warned. Dementia was first described by the German doctor Alois Alzheimer in 1906 after he performed an autopsy on a woman with profound memory loss. What he found was a dramatically shrunken brain and abnormalities in and around nerve cells. At the time dementia was rare and was then barely studied for decades. But today somebody is diagnosed with it every three seconds, it is the biggest killer in some wealthier countries and is completely untreatable. So what is this disease? Why is it becoming more common? And is there any hope? Is dementia the same as Alzheimer's? No - dementia is a symptom found in many diseases of the brain. Memory loss is the most common feature of dementia, particularly the struggle to remember recent events. Other symptoms can include changes to behaviour, mood and personality, becoming lost in familiar places or being unable to find the right word in a conversation. It can reach the point where people don't know they need to eat or drink. Alzheimer's disease is by far the most common of the diseases that cause dementia. Others include vascular dementia, dementia with Lewy bodies, fronto-temporal dementia, Parkinson's disease dementia, amyotrophic lateral sclerosis and the newly discovered Late. © 2019 BBC

Keyword: Alzheimers
Link ID: 26207 - Posted: 05.04.2019

Maria Temming New artwork created by artificial intelligence does weird things to the primate brain. When shown to macaques, AI-generated images purposefully caused nerve cells in the monkeys’ brains to fire more than pictures of real-world objects. The AI could also design patterns that activated specific neurons while suppressing others, researchers report in the May 3 Science. This unprecedented control over neural activity using images may lead to new kinds of neuroscience experiments or treatments for mental disorders. The AI’s ability to play the primate brain like a fiddle also offers insight into how closely AIs can emulate brain function. The AI responsible for the new mind-bending images is an artificial neural network — a computer model composed of virtual neurons — modeled after the ventral stream. This is a neural pathway in the brain involved in vision (SN Online: 8/12/09). The AI learned to “see” by studying a library of about 1.3 million labeled images. Researchers then instructed the AI to design pictures that would affect specific ventral stream neurons in the brain. Viewing any image triggers some kind of neural activity in a brain. But neuroscientist Kohitij Kar of MIT and colleagues wanted to see whether the AI’s deliberately designed images could induce specific neural responses of the team’s choosing. The researchers showed these images to three macaques fitted with neuron-monitoring microelectrodes. |© Society for Science & the Public 2000 - 2019.

Keyword: Vision
Link ID: 26206 - Posted: 05.03.2019

Ruth Williams Showing monkeys a series of computer-generated images and simultaneously recording the animals’ brain cell activities enables deep machine learning systems to generate new images that ramp up the cells’ excitation, according to two papers published today (May 2) in Cell and Science. “It’s exciting because it’s bridging the fields of deep learning and neuroscience . . . to try and understand what is represented in different parts of the brain,” says neuroscientist Andreas Tolias of Baylor College of Medicine who was not involved with either of the studies, but has carried out similar experiments in mice. “I think these methods and their further development could provide a more systematic way for us to open the black box of the brain,” he says. It’s a goal of sensory neuroscience to understand exactly which stimuli activate which brain cells. In the primate visual system, certain neurons in the visual cortex and inferior temporal cortex (two key vision areas) are known to respond preferentially to certain stimuli—such as colors, specific directions of motion, curves, and even faces. But, says neuroscientist Carlos Ponce of Washington University School of Medicine in St. Louis, who co-authored the Cell paper, “the problem is, we’ve never quite known whether, in our selection of pictures, we have the secret true image that the cell really is encoding.” Maybe, he suggests, a cell isn’t responding to a face, but to an arrangement of features and shapes found in a face that may also be found in other images. And with countless available images, “it’s impossible to test all of them,” he says. In short, it has been impossible to determine the exact visual stimulus that would maximally activate a given neuron. © 1986–2019 The Scientist.

Keyword: Vision
Link ID: 26205 - Posted: 05.03.2019

By Jocelyn Kaiser WASHINGTON, D.C.—A new gene therapy treatment has had striking results in nine boys born with myotubular myopathy (MTM), a rare disease that causes extreme muscle weakness often from birth. All of the boys have better neuromuscular function, most can sit on their own, and four are now breathing without ventilators. As videos of their improvements were shown here on 1 May at the annual meeting of the American Society of Gene & Cell Therapy (ASGCT), the audience broke out in applause. The results, the first of their kind for this rare disease, cap a year of early signs of success in using gene therapy for inherited muscle diseases. As far as muscle function is concerned, the boys “have gone from nothing to something,” says principal investigator Perry Shieh, a neurologist at the University of California, Los Angeles. “Time will tell how much that something will be.” The patients in the new study have X-linked MTM, caused by a defect in a gene called MTM1 that encodes an enzyme, myotubularin. Skeletal muscles need the enzyme to develop and function. Boys with the disease have low muscle tone and, in many cases, can barely breathe or move on their own; most require a ventilator and feeding tube. Half of patients die by 18 months, and few live past age 10. In the trial, sponsored by Audentes Therapeutics, a gene therapy company in San Francisco, California, nine boys between 8 months and 6 years old with X-linked MTM received an intravenous (IV) infusion of many trillions of particles of a harmless virus, called an adeno-associated virus. The viruses were designed to carry a good copy of the MTM1 gene into the boys’ muscle cells. The gene, a free-floating piece of DNA, could then trigger the cell’s proteinmaking machinery to produce myotubularin. Three patients had serious side effects that may have been related to the therapy, such as heart inflammation, but all were treatable. © 2019 American Association for the Advancement of Science

Keyword: Movement Disorders; Muscles
Link ID: 26204 - Posted: 05.03.2019

By Heather Murphy The scent of lily of the valley cannot be easily bottled. For decades companies that make soap, lotions and perfumes have relied on a chemical called bourgeonal to imbue their products with the sweet smell of the little white flowers. A tiny drop can be extraordinarily intense. If you can smell it at all, that is. For a small percentage of people, it fails to register as anything. Similarly, the earthy compound 2-ethylfenchol, present in beets, is so powerful for some people that a small chunk of the root vegetable smells like a heap of dirt. For others, that same compound is as undetectable as the scent of bottled water. These — and dozens of other differences in scent perception — are detailed in a new study, published this week in the journal PNAS. The work provides new evidence of how extraordinarily different one person’s “smellscape” may be from another’s. It’s not that some people are generally better smellers, like someone else may have better eyesight, it’s that any one person might experience certain scents more intensely than their peers. “We’re all smelling things a little bit differently,” said Steven Munger, director of The Center for Smell and Taste at the University of Florida, who was not involved in the study. The scientists who conducted the study looked for patterns in subjects’ genetic code that could explain these olfactory differences. They were surprised to find that a single genetic mutation was linked to differences in perception of the lily of the valley scent, beet’s earthiness, the intensity of whiskey’s smokiness along with dozens of other scents. “I think it’s a very important finding,” said Stavros Lomvardas, a neuroscientist at Columbia University’s Zuckerman Institute, who was not involved in the research either. The study was conducted in a large room at Rockefeller University in New York City. Around 300 subjects were invited to sit in front of a computer screen surrounded by 150 jars of assorted odors. The screen alerted them to which jar sniff at any given time, and they then rated the intensity of each on a scale from 1 (extremely weak) to 7 (extremely strong) and pleasantness from 1 (extremely unpleasant) to 7 (extremely pleasant). © 2019 The New York Times Company

Keyword: Chemical Senses (Smell & Taste); Genes & Behavior
Link ID: 26203 - Posted: 05.03.2019