Chapter 5. The Sensorimotor System
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Carl Zimmer Scientists in Iceland have produced an unprecedented snapshot of a nation’s genetic makeup, discovering a host of previously unknown gene mutations that may play roles in ailments as diverse as Alzheimer’s disease, heart disease and gallstones. “This is amazing work, there’s no question about it,” said Daniel G. MacArthur, a geneticist at Massachusetts General Hospital who was not involved in the research. “They’ve now managed to get more genetic data on a much larger chunk of the population than in any other country in the world.” In a series of papers published on Wednesday in the journal Nature Genetics, researchers at Decode, an Icelandic genetics firm owned by Amgen, described sequencing the genomes — the complete DNA — of 2,636 Icelanders, the largest collection ever analyzed in a single human population. With this trove of genetic information, the scientists were able to accurately infer the genomes of more than 100,000 other Icelanders, or almost a third of the entire country. “From the technical point of view, these papers are a tour-de-force,” said David Reich, a geneticist at Harvard Medical School who was not involved in the research. While some diseases, like cystic fibrosis, are caused by a single genetic mutation, the most common ones are not. Instead, mutations to a number of different genes can each raise the risk of getting, say, heart disease or breast cancer. Discovering these mutations can shed light on these diseases and point to potential treatments. But many of them are rare, making it necessary to search large groups of people to find them. The wealth of data created in Iceland may enable scientists to begin doing that. In their new study, the researchers at Decode present several such revealing mutations. For example, they found eight people in Iceland who shared a mutation on a gene called MYL4. Medical records showed that they also have early onset atrial fibrillation, a type of irregular heartbeat. © 2015 The New York Times Company
By Kate Baggaley Mutations on a gene necessary for keeping cells clean can cause Lou Gehrig’s disease, scientists report online March 24 in Nature Neuroscience. The gene is one of many that have been connected to the condition. In amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, nerve cells that control voluntary movement die, leading to paralysis. Scientists have previously identified mutations in 29 genes that are linked with ALS, but these genes account for less than one-third of all cases. To track down more genes, a team of European researchers looked at the protein-coding DNA of 252 ALS patients with a family history of the disease, as well as of 827 healthy people. The team discovered eight mutations on a gene called TBK1 that were associated with ALS. TBK1 normally codes for a protein that controls inflammation and cleans out damaged proteins from cells. “We do not know which of these two principle functions of TBK1 is the more relevant one” to ALS, says coauthor Jochen Weishaupt, a neurologist at Ulm University in Germany. In cells with one of the eight TBK1 mutations, the protein either is missing or lacks components that it needs to interact with other proteins, the researchers found. TBK1 mutations may explain 2 percent of ALS cases that run in families, which make up about 10 percent of all incidences of the disease, Weishaupt says. © Society for Science & the Public 2000 - 2015
By Gary Stix One of the most intriguing new areas of research in neuroscience has to do with the discovery that proteins involved with Alzheimer’s, Parkinson’s and other neurodegenerative illnesses can contort into the wrong shape. The misshapen molecules can spread throughout the brain in a manner akin to prion diseases—the most notorious of which is variant Creutzfeldt-Jakob disease, better known as Mad Cow. Misfolded proteins can lead to a buildup of cellular gunk that then causes damage inside or outside cells. If the process of misfolding observed in Alzheimer’s and Parkinson’s is similar to the one in Mad Cow, the next question is whether these misshapen proteins are transmissible from one organism to another. Last month, an article appeared in Acta Neuropathologica Communications from researchers at the Centre for Biological Threats and Special Pathogens at the Robert Koch-Institut in Berlin that raised questions about whether medical instruments need to be decontaminated if they come into contact with post-mortem brain tissue from Alzheimer’s or Parkinson’s patients. The case for putting in place such prophylaxis is rooted in lab studies that show that injecting deposits of these proteins into an animal brain can initiate a “seeding” process in which one protein causes another to misfold. “Whether those harmful effects can be also caused by transmitted protein particles in humans who express mutated or normal alpha-synuclein, A-beta or tau is still unknown,” the article says. But then it goes on: “…the ability to decontaminate medical instruments from aggregated A-beta, tau and alpha-synuclein may potentially add to patient safety.” © 2015 Scientific American
Claudia Dreifus Twenty-three states and the District of Columbia have legalized medical marijuana, but scientific research into its appropriate uses has lagged. Dr. Mark Ware would like to change that. Dr. Ware, 50, is the director of the Canadian Consortium for the Investigation of Cannabinoids and the director of clinical research of the Alan Edwards Pain Management Unit of McGill University Health Center. Medical marijuana has been legal in Canada for 16 years, and Dr. Ware, a practicing physician, studies how his patients take the drug and under what conditions it is effective. We spoke for two hours at the recent meeting of the American Association for the Advancement of Science and later by telephone. Our interviews have been condensed and edited for space. Q. How did you become interested in the medical possibilities of cannabis? A. In the late 1990s, I was working in Kingston, Jamaica, at a clinic treating people with sickle cell anemia. My British father and Guyanese mother had raised me in Jamaica, and I’d attended medical school there. One day, an elderly Rastafarian came for his annual checkup. I asked him, “What are your choices of medicines?” He leaned over the table and said, “You must study the herb.” That night, I went back to my office and looked up “cannabis and pain.” What I found were countless anecdotes from patients who’d obtained marijuana either legally or not and who claimed good effect with a variety of pain-related conditions. There were also the eye-opening studies showing that the nervous system had specific receptors for cannabinoids and that these receptors were located in areas related to pain. Everything ended with, “More studies are needed.” So I thought, “This is what I should be doing; let’s go!” © 2015 The New York Times Company
by Emiko Jozuka Touch, says David J. Linden, is something we take for granted. "It's very hard to imagine it gone," he tells WIRED.co.uk. "You can imagine what it's like to be blind or deaf, or have no sense of smell, but there's no way to turn off touch". Touch might not be an obvious starting point for Linden, who is a professor of neuroscience at the John Hopkins University, studying learning and memory. But according to the professor, "the story of the neuroscience underlying touch has yet to be told". Pointing to the advances made in touch research over the last 20 years, Linden tells us that his own interest in the topic was sparked over lunch by colleagues working in the School of Medicine. Making the complex links between the brain and our sense of touch accessible to a wider audience is no easy feat. Yet in his recent book entitled, Touch: The Science of Hand, Heart, and Mind, Linden offers anecdotal and factual ways in to exploring different aspects of touch, whether that be in the form of pain, itches, hot and cold sensations or caresses. "We think of touch as being a one sense modality, but it's many different sensors in the skin acting in parallel," says Linden. He explains how the information in the form of, for example, an itch, pain or caress relays to the brain, dividing them into either discriminative or emotional forms of touch. The discriminative touch allows a person to understand where the body is being touched, or to understand if an object is textured, smooth or 3D. While emotional touch is what makes pain feel emotionally negative, or an orgasm feel positive, says Linden.
Keyword: Pain & Touch
Link ID: 20708 - Posted: 03.21.2015
Jane Brody The Holy Grail in any progressive disease is to find it early enough to start effective treatment before irreversible damage has occurred. For Parkinson’s disease, which afflicts 1.5 million Americans and growing, a new study has brought this goal a little closer. The study, conducted among more than 54,000 British men and women, identified a slew of symptoms that were more likely to be present in people who years later were diagnosed with Parkinson’s. The findings underscore the prevailing view among neurologists that the damage caused by this disease begins long before classic symptoms like tremors, rigidity and an unsteady gait develop and a definite diagnosis can be made. The study, by Dr. Anette Schrag and fellow neurologists at the University College London, was published in The Lancet in January. As many as five years before a diagnosis of Parkinson’s, those who developed it were more likely to have experienced tremor, balance problems, constipation, low blood pressure, dizziness, erectile and urinary dysfunction, fatigue, depression and anxiety. In addition, Dr. Claire Henchcliffe, director of the Parkinson’s Disease and Movement Disorders Institute at Weill Cornell Medical Center, said that REM sleep behavior disorder, characterized by a tendency to act out one’s dreams while asleep, is one of the strongest prediagnostic symptoms, along with a lost sense of smell and subtle changes in cognition. Dr. Melissa J. Nirenberg, a Parkinson’s disease specialist at New York University Medical Center, said, “Up to 80 percent of people with the sleep disorder get Parkinson’s or a similar neurodegenerative disease.” © 2015 The New York Times Company
Jon Hamilton Since his birth 33 years ago, Jonathan Keleher has been living without a cerebellum, a structure that usually contains about half the brain's neurons. This exceedingly rare condition has left Jonathan with a distinctive way of speaking and a walk that is slightly awkward. He also lacks the balance to ride a bicycle. But all that hasn't kept him from living on his own, holding down an office job and charming pretty much every person he meets. "I've always been more into people than anything else," Jonathan tells me when I meet him at his parents' house in Concord, Mass., a suburb of Boston. "Why read a book or why do anything when you can be social and talk to people?" Jonathan is also making an important contribution to neuroscience. By allowing scientists to study him and his brain, he is helping to change some long-held misconceptions about what the cerebellum does. And that, in turn, could help the hundreds of thousands of people whose cerebellums have been damaged by a stroke, infection or disease. For decades, the cerebellum has been the "Rodney Dangerfield of the brain," says Dr. Jeremy Schmahmann, a professor of neurology at Harvard and Massachusetts General Hospital. It gets no respect because most scientists only know about its role in balance and fine motor control. © 2015 NPR
Jon Hamilton A new understanding of the brain's cerebellum could lead to new treatments for people with problems caused by some strokes, autism and even schizophrenia. That's because there's growing evidence that symptoms ranging from difficulty with abstract thinking to emotional instability to psychosis all have links to the cerebellum, says Jeremy Schmahmann, a professor of neurology at Harvard and Massachusetts General Hospital. "The cerebellum has all these functions we were previously unaware of," Schmahmann says. Scientists once thought the cerebellum's role was limited to balance and coordinating physical movements. In the past couple of decades, though, there has been growing evidence that it also plays a role in thinking and emotions. As described in an earlier post, some of the most compelling evidence has come from people like Jonathan Keleher, people born without a cerebellum. "I'm good at routine (activities) and (meeting) people," says Keleher, who is 33. He also has good long-term memory. What he's not good at is strategizing and abstract thinking. But remarkably, Keleher's abilities in these areas have improved dramatically over time. "I'm always working on how to better myself," he says. "And it's a continuous struggle." © 2015 NPR
Jon Hamilton Alzheimer's, Parkinson's and amyotrophic lateral sclerosis ravage the brain in very different ways. But they have at least one thing in common, says Corinne Lasmezas, a neuroscientist and professor at Scripps Research Institute, in Jupiter, Fla. Each spreads from brain cell to brain cell like an infection. "So if we could block this [process], that might prevent the diseases," Lasmezas says. It's an idea that's being embraced by a growing number of researchers these days, including Nobel laureate Dr. Stanley Prusiner, who first recognized in the 1980s the infectious nature of brain proteins that came to be called prions. But the idea that mad cow prions could cause disease in people has its origins in an epidemic of mad cow disease that occurred in Europe and the U.K. some 15 years ago. Back then, Lasmezas was a young researcher in France studying how mad cow, formally known as bovine spongiform encephalopathy, was transmitted. "At that time, nobody knew if this new disease in cows was actually transmissible to humans," she says. In 1996, Lasmezas published a study strongly suggesting that it was. "So that was my first great research discovery," she says. Prions, it turns out, become toxic to brain cells when folded into an abnormal shape. "This misfolded protein basically kills the neurons," Lasmezas says. © 2015 NPR
by Sarah Zielinski Before they grow wings and fly, young praying mantises have to rely on leaps to move around. But these little mantises are really good at jumping. Unlike most insects, which tend to spin uncontrollably and sometimes crash land, juvenile praying mantises make precision leaps with perfect landings. But how do they do that? To find out, Malcolm Burrows of the University of Cambridge in England and colleagues filmed 58 juvenile Stagmomantis theophila praying mantises making 381 targeted jumps. The results of their study appear March 5 in Current Biology. For each test leap, the researchers put a young insect on a ledge with a black rod placed one to two body lengths away. A jump to the rod was fast — only 80 milliseconds, faster than a blink of an eye — but high-speed video captured every move at 1,000 frames per second. That let the scientists see what was happening: First, the insect shook its head from side to side, scanning its path. Then it rocked backwards and curled up its abdomen, readying itself to take a leap. With a push of its legs, the mantis was off. In the air, it rotated its abdomen, hind legs and front legs, but its body stayed level until it hit the target and landed on all four limbs. “The abdomen, front legs and hind legs performed a series of clockwise and anticlockwise rotations during which they exchanged angular momentum at different times and in different combinations,” the researchers write. “The net result … was that the trunk of the mantis spun by 50˚relative to the horizontal with a near-constant angular momentum, aligning itself perfectly for landing with the front and hind legs ready to grasp the target.” © Society for Science & the Public 2000 - 2015
Link ID: 20663 - Posted: 03.07.2015
Loss of sensation in the eye that gradually leads to blindness has been prevented with an innovative technique, Canadian surgeons say. Abby Messner, 18, of Stouffville, Ont., lost feeling in her left eye after a brain tumour was removed, along with a nerve wrapped around it, when she was 11. Messner said she didn’t notice the loss of feeling until she scratched the eye. Messner wasn’t able to feel pain in the eye, a condition called corneal anaesthesia. Despite her meticulous care, the eye wouldn’t blink to protect itself when confronted by dust. A scar formed on her cornea, burrowed through, and formed a scar doctors feared would eventually obliterate her vision. "Everyone was like, 'Wow, she had a brain tumour and she’s fine," Messner recalled. "You don't really think that everything that is holding me back is my eye." Messner had to give up competitive swimming because of irritation from the chlorine, playing hockey, spending time outdoors where wind was a hazard or inside dry shopping malls. Over time, ophthalmology surgeon Dr. Asam Ali at SickKids introduced the idea of a nerve graft to restore feeling in the eye. "She started getting feeling back at about the two, three-month mark and that was a real surprise to her and we were very happy at that point because that was a lot faster than anything that had been reported before," Ali said. ©2015 CBC/Radio-Canada.
By Abby Phillip Jan Scheuermann, who has quadriplegia, brings a chocolate bar to her mouth using a robot arm guided by her thoughts. Research assistant Elke Brown watches in the background. (University of Pittsburgh Medical Center) Over at the Defense Advanced Research Projects Agency, also known as DARPA, there are some pretty amazing (and often top-secret) things going on. But one notable component of a DARPA project was revealed by a Defense Department official at a recent forum, and it is the stuff of science fiction movies. According to DARPA Director Arati Prabhakar, a paralyzed woman was successfully able use her thoughts to control an F-35 and a single-engine Cessna in a flight simulator. It's just the latest advance for one woman, 55-year-old Jan Scheuermann, who has been the subject of two years of groundbreaking neurosignaling research. First, Scheuermann began by controlling a robotic arm and accomplishing tasks such as feeding herself a bar of chocolate and giving high fives and thumbs ups. Then, researchers learned that -- surprisingly -- Scheuermann was able to control both right-hand and left-hand prosthetic arms with just the left motor cortex, which is typically responsible for controlling the right-hand side. After that, Scheuermann decided she was up for a new challenge, according to Prabhakar.
Link ID: 20647 - Posted: 03.04.2015
by Hal Hodson Video: Bionic arm trumps flesh after elective amputation Bionic hands are go. Three men with serious nerve damage had their hands amputated and replaced by prosthetic ones that they can control with their minds. The procedure, dubbed "bionic reconstruction", was carried out by Oskar Aszmann at the Medical University of Vienna, Austria. The men had all suffered accidents which damaged the brachial plexus – the bundle of nerve fibres that runs from the spine to the hand. Despite attempted repairs to those nerves, the arm and hand remained paralysed. "But still there are some nerve fibres present," says Aszmann. "The injury is so massive that there are only a few. This is just not enough to make the hand alive. They will never drive a hand, but they might drive a prosthetic hand." This approach works because the prosthetic hands come with their own power source. Aszmann's patients plug their hands in to charge every night. Relying on electricity from the grid to power the hand means all the muscles and nerves need do is send the right signals to a prosthetic. Before the operation, Aszmann's patients had to prepare their bodies and brains. First he transplanted leg muscle into their arms to boost the signal from the remaining nerve fibres. Three months later, after the nerves had grown into the new muscle, the men started training their brains. © Copyright Reed Business Information Ltd.
Link ID: 20617 - Posted: 02.26.2015
Sara Reardon Annie is lying down when she answers the phone; she is trying to recover from a rare trip out of the house. Moving around for an extended period leaves the 56-year-old exhausted and with excruciating pain shooting up her back to her shoulders. “It's really awful,” she says. “You never get comfortable.” In 2011, Annie, whose name has been changed at the request of her lawyer, slipped and fell on a wet floor in a restaurant, injuring her back and head. The pain has never eased, and forced her to leave her job in retail. Annie sued the restaurant, which has denied liability, for several hundred thousand dollars to cover medical bills and lost income. To bolster her case that she is in pain and not just malingering, Annie's lawyer suggested that she enlist the services of Millennium Magnetic Technologies (MMT), a Connecticut-based neuroimaging company that has a centre in Birmingham, Alabama, where Annie lives. MMT says that it can detect pain's signature using functional magnetic resonance imaging (fMRI), which measures and maps blood flow in the brain as a proxy for neural activity. The scan is not cheap — about US$4,500 — but Steven Levy, MMT's chief executive, says that it is a worthwhile investment: the company has had ten or so customers since it began offering the service in 2013, and all have settled out of court, he says. If the scans are admitted to Annie's trial, which is expected to take place early this year, it could establish a legal precedent in Alabama. Most personal-injury cases settle out of court, so it is impossible to document how often brain scans for pain are being used in civil law. But the practice seems to be getting more common, at least in the United States, where health care is not covered by the government and personal-injury cases are frequent. Several companies have cropped up, and at least one university has offered the service. © 2015 Nature Publishing Group
By Michelle Roberts Health editor, BBC News online Scientists have proposed a new idea for detecting brain conditions including Alzheimer's - a skin test. Their work, which is at an early stage, found the same abnormal proteins that accumulate in the brain in such disorders can also be found in skin. Early diagnosis is key to preventing the loss of brain tissue in dementia, which can go undetected for years. But experts said even more advanced tests, including ones of spinal fluid, were still not ready for clinic. If they were, then doctors could treatment at the earliest stages, before irreversible brain damage or mental decline has taken place. Brain biomarker Investigators have been hunting for suitable biomarkers in the body - molecules in blood or exhaled breath, for example, that can be measured to accurately and reliably signal if a disease or disorder is present. Dr Ildefonso Rodriguez-Leyva and colleagues from the University of San Luis Potosi, Mexico, believe skin is a good candidate for uncovering hidden brain disorders. Skin has the same origin as brain tissue in the developing embryo and might, therefore, be a good window to what's going on in the mind in later life - at least at a molecular level - they reasoned. Post-mortem studies of people with Parkinson's also reveal that the same protein deposits which occur in the brain with this condition also accumulate in the skin. To test if the same was true in life as after death, the researchers recruited 65 volunteers - 12 who were healthy controls and the remaining 53 who had either Parkinson's disease, Alzheimer's or another type of dementia. They took a small skin biopsy from behind the ear of each volunteer to test in their laboratory for any telltale signs of disease. Specifically, they looked for the presence of two proteins - tau and alpha-synuclein. © 2015 BBC.
By JON PALFREMAN EUGENE, Ore. — FOUR years ago, I was told I had Parkinson’s disease, a condition that affects about one million Americans. The disease is relentlessly progressive; often starting with a tremor in one limb on one side of the body, it spreads. The patient’s muscles become more rigid, frequently leading to a stooped posture, and movements slow down and get smaller and less fluid. As the disease advances — usually over a number of years — the patient becomes more and more disabled, experiencing symptoms from constipation to sleep disorders to cognitive impairment. Can Parkinson’s be slowed, stopped or even reversed? Can the disease be prevented before it starts, like polio and smallpox? More than at any time in history, success seems possible. Having sequenced the human genome, biomedical researchers have now set their sights on the ultimate frontier — the human brain. The formidable puzzle is to figure out how a three-pound lump of mostly fatty matter enables us to perform a seemingly endless number of tasks, like walking, seeing, hearing, smelling, tasting, touching, thinking, loving, hating, speaking and writing ... and why those awesome abilities break down with neurological disease. Many scientists view Parkinson’s as a so-called pathfinder. If they can figure out what causes Parkinson’s, it may open the door to understanding a host of other neurodegenerative diseases — and to making sense of an organ of incredible complexity. In Parkinson’s, the circuitry in a tiny region of the brain called the basal ganglia becomes dysfunctional. Along with the cerebellum, the basal ganglia normally acts as a kind of adviser that helps people learn adaptive skills by classic conditioning — rewarding good results with dopamine bursts and punishing errors by withholding the chemical. Babies rely on the basal ganglia to learn how to deploy their muscles to reach, grab, babble and crawl, and later to accomplish many complex tasks without thinking. For example, when a tennis player practices a stroke over and over again, the basal ganglia circuitry both rewards and “learns” the correct sequence of activities to produce, say, a good backhand drive automatically. © 2015 The New York Times Company
Link ID: 20606 - Posted: 02.24.2015
By Sandra G. Boodman Catherine Cutter’s voice was her livelihood. A professor of food science at Penn State University, the microbiologist routinely lectured to large classes about food safety in the meat and poultry industries. But in 2008, after Cutter’s strong alto voice deteriorated into a raspy whisper, she feared her academic career might be over.How could she teach if her students could barely hear her? The classroom wasn’t the only area of Cutter’s life affected by her voicelessness. The mother of two teenagers, Cutter, now 52, recalls that she “couldn’t yell — or even talk” to her kids and would have to knock on a wall or countertop to get their attention. Social situations became increasingly difficult as well, and going to a restaurant was a chore. Using the drive-through at her bank or dry cleaner was out of the question because she couldn’t be heard. “I just retreated,” said Cutter, who sought assistance from nearly two dozen specialists for her baffling condition. The remedies doctors prescribed — when they worked at all — resulted in improvement that was temporary at best. For two years Cutter searched in vain for help. It arrived in the form of a neurosurgeon she consulted for a second opinion about potentially risky surgery to correct a different condition. He suggested a disorder that had never been mentioned, a diagnosis that proved to be correct — and correctable. Until then, “everyone had been looking in the wrong place,” Cutter said.
Keyword: Movement Disorders
Link ID: 20605 - Posted: 02.24.2015
By Emily Underwood SAN JOSE, CALIFORNIA—If you've ever had a migraine, you know it's no ordinary headache: In addition to throbbing waves of excruciating pain, symptoms often include nausea, visual disturbances, and acute sensitivity to sounds, smells, and light. Although there's no cure for the debilitating headaches, which affect roughly 10% of people worldwide, researchers are starting to untangle their cause and find more effective treatments. Here today at the annual meeting of AAAS (which publishes Science), Science sat down with Teshamae Monteith, a clinical neurologist at the University of Miami Health System in Florida, today to discuss the latest advances in the field. Q: How is our understanding of migraine evolving? A: It's more complicated than we thought. In the past, researchers thought of migraine as a blood vessel disorder, in part because some patients can feel a temple pulsation during a migraine attack. Now, migraine is considered a sensory perceptual disorder, because so many of the sensory systems—light, sound, smell, hearing—are altered. During an attack, patients have concentration impairments, appetite changes, mood changes, and sleeping is off. What fascinates me is that patients are often bothered by manifestations of migraine, such as increased sensitivity to light, in between attacks, suggesting that they may be wired differently, or their neurobiology may be altered. About two-thirds of patients with acute migraine attacks have allodynia, a condition that makes people so sensitive to certain stimuli that even steam from a shower can be incredibly painful. One way to view it is that migraineurs at baseline are at a different threshold for sensory stimuli. © 2015 American Association for the Advancement of Science.
Keyword: Pain & Touch
Link ID: 20585 - Posted: 02.16.2015
By Siri Carpenter “I don’t look like I have a disability, do I?” Jonas Moore asks me. I shake my head. No, I say — he does not. Bundled up in a puffy green coat in a drafty Starbucks, Moore, 35 and sandy-haired, doesn’t stand out in the crowd seeking refuge from the Wisconsin cold. His handshake is firm and his blue eyes meet mine as we talk. He comes across as intelligent and thoughtful, if perhaps a bit reserved. His disability — autism — is invisible. That’s part of the problem, says Moore. Like most people with autism spectrum disorders, he finds relationships challenging. In the past, he has been quick to anger and has had what he calls “meltdowns.” Those who don’t know he has autism can easily misinterpret his actions. “People think that when I do misbehave I’m somehow intentionally trying to be a jerk,” Moore says. “That’s just not the case.” His difficulty managing emotions has gotten him into some trouble, and he’s had a hard time holding onto jobs — an outcome he might have avoided, he says, if his coworkers and bosses had better understood his intentions. Over time, things have gotten better. Moore has held the same job for five years, vacuuming commercial buildings on a night cleaning crew. He attributes his success to getting the right amount of medication and therapy, to time maturing him and to the fact that he now works mostly alone. Moore is fortunate. His parents help support him financially. He has access to good mental health care. And with the help of the state’s division of vocational rehabilitation, he has found a job that suits him. Many adults with autism are not so lucky. © Society for Science & the Public 2000 - 2015.
Link ID: 20574 - Posted: 02.13.2015
|By Stephani Sutherland More than half a billion people carry a genetic mutation that incapacitates the enzyme responsible for clearing alcohol from the body. The deficiency is responsible for an alcohol flush reaction, colloquially known as the “Asian glow” because the vast majority of carriers are descendants of the Han Chinese. Now research published last September in Science Translational Medicine suggests that the mutation might also compromise carriers' pain tolerance. The finding points to a new target for pharmaceutical pain relief and implies that drinking alcohol might exacerbate inflammatory conditions such as arthritis. When people consume alcohol, the body breaks it down into several by-products, including chemicals called aldehydes. These compounds are noxious if they remain in the system too long, causing flushing, nausea, dizziness and other symptoms of the alcohol flush reaction. In most people, aldehydes are immediately broken down by the enzyme aldehyde dehydrogenase (ALDH2), but in those with the genetic mutation, the enzyme is incapacitated. Researchers led by Daria Mochly-Rosen of Stanford University genetically modified some mice to carry the mutation seen in humans that disables ALDH2. When they injected those mice and normal mice in the paw with an inflammatory compound that turned it red and swollen, mice carrying the mutation showed increased sensitivity to a poke compared with those with functioning ALDH2. When the researchers treated all the rodents with a novel drug called Alda-1 that boosts ALDH2 activity, the pain symptoms were reduced regardless of whether they carried the gene mutation. © 2015 Scientific American