Posts tagged neuroscience
Articles and news from the latest research reports.
Genetics of Obsessive-Compulsive Disorder Narrowed Down
The first genome-wide searches for the genes responsible for Tourette syndrome and obsessive-compulsive disorder have uncovered a few clues to the underpinnings of both disorders.
Tourette syndrome is a neurological disorder characterized by muscle and vocal tics such as eye blinking, throat clearing and uttering taboo words or phrases. Tourette’s often co-occurs with obsessive-compulsive disorder (OCD), a mental illness marked by repetitive behaviors and anxiety-producing intrusive thoughts.
Neither Tourette syndrome nor OCD are simple enough to be traced to a single gene, but two new studies detailed today (Aug. 14) in the journal Molecular Psychiatry find several locations on the human chromosome that may contribute to the conditions.
A DNA molecule.
CREDIT: Giovanni Cancemi | Shutterstock
"Both disorders clearly have a complex underlying genetic architecture, and these two studies lay the foundation for understanding the underlying genetic etiology of Tourette syndrome and OCD," said Jeremiah Scharf, a neurologist at Massachusetts General Hospital in Boston, who worked on both projects.
Genetics of Tourette Syndrome
In the Tourette syndrome study, Scharf and his colleagues compared the genomes of more than 1,200 people with the disorder with the genomes of nearly 5,000 healthy individuals. They conducted what’s called a genome-wide association study, scanning hundreds of thousands of genetic variants from across the genomes to see if any were more common in the people with the disorder.
They found that no single genetic signal was significantly different between the two genomes, meaning that the researchers could not rule out random chance as the reason for any given difference. But among the top genetic variations, the researchers found an unusually high number that influence levels of gene expression in the frontal lobe of the brain — a region important in both Tourette syndrome and OCD, Scharf said.
One intriguing gene that varied the most between Tourette- and non-Tourette genomes was called COL27A1, a gene that encodes a collagen protein found in cartilage. The same gene is also active in the cerebellum, a brain region important for motor control during development. More research will be necessary to find what link, if any, COL27A1 has to Tourette syndrome, Scharf said.
The architecture of OCD
In a separate study, the scientists carried out the same analysis on healthy genomes as well as about 1,500 people with obsessive-compulsive disorder. Again, no one gene rose to the top as a definitive OCD gene, but the results revealed a good candidate near a gene called BTBD3, which is involved in multiple cellular functions. BTBD3 is very active in the brain during childhood and adolescent development, when OCD often first appears. It’s also related to a gene called BTBD9, which has been linked to Tourette syndrome in the past.
This first genome-wide pass is bound to turn up some false positives, Scharf said, so researchers will now need to home in on the intriguing genes in larger samples of people. They are also merging the two studies to look for genetic linkages that might explain why Tourette syndrome and OCD so frequently co-occur.
"The important thing this study does is that it really brings Tourette syndrome and OCD into the company of a number of other psychiatric diseases, which people have studied using genome-wide association," Scharf said, citing autism, schizophrenia and bipolar disorder as examples. “Now that we have these data for Tourette syndrome and OCD, we can work with investigators who are studying those other diseases to try to see what we can learn about what variants are shared between different neurodevelopment disorders.”
Source: Live Science
A young autistic boy has found his outlet in making science videos. Jordan Hilkowitz was diagnosed with autism when he was just 18 months old, he didn’t begin to speak until he was 5. His mother Stacey remembers the heartbreak she experienced as she watched her young son bang his head against the wall out of frustration at not being able to communicate.
It was his babysitter’s idea for Jordan to start making science videos. He’d always had an interest in science, and she felt that this could be an outlet for him to communicate to a larger audience. Larger indeed! Jordan’s channel, Doctor Mad Science, has received over 2.4 million views to date – and he’s become a local celebrity for his scientific knowhow.
(Source: blogs.scientificamerican.com)
Palaeontologists from the University of Zurich have “rediscovered” a skull bone that was thought to have been lost during the course of evolution for many mammals.
Mammals’ skulls are composed of around 20 bones — fewer than those of fish, reptiles and birds. This is because when mammals evolved from reptile-like vertebrates 320 million years ago, the skull structure simplified. Some bones were lost in the process, particularly some of the skull roof bones. The interparietal is one such bone, but it has perplexed researchers since it had survived in some mammals, such as horses and cats (and 2.8 percent of humans) but not in others.
The interparietal is clearly discernible in the embryo, but fuses with other bones beyond recognition shortly afterwards. As a result it’s often been missed. However, new imaging techniques have been able to detect its presence in all mammals.
The scent of love: Decomposition and male sex pheromones
A team of researchers, led by Christian von Hoermann from Ulm University, Germany, filled olfactometers with different volatile scents and recorded which scents female hide beetles were attracted to. The scents used were pig cadaver, collected at different stages of decay, male pheromone gland extract, synthetic pheromones, and a control, pentane (an organic solvent which was used to extract the other odours).
The females ignored both the control and synthetic pheromone. In fact they pretty much ignored everything apart from the odour of piglet in the dry remains stage, as long as it was enhanced by male pheromones.
Christian von Hoermann explained, “Although cadaver odour alone is not sufficient to attract two to three week-old virgin female hide beetles, it is enough to attract newly emerged males.” Release of pheromones by these males appears to signal the cadaver as an appropriate site for feeding, mating and egg laying. Evolution seems to have ensured that hide beetle females only respond to a mate (or a food source for their larvae) when the other is also present, so that they can optimise the chances of their offspring’s survival.
In a new study, scientists at the Wisconsin Institute for Discovery (WID) at UW-Madison develop a computational approach to determine whether individuals behave predictably. With data from previous fights, the team looked at how much memory individuals in the group would need to make predictions themselves. The analysis proposes a novel estimate of “cognitive burden,” or the minimal amount of information an organism needs to remember to make a prediction.
The research draws from a concept called “sparse coding,” or the brain’s tendency to use fewer visual details and a small number of neurons to stow an image or scene. Previous studies support the idea that neurons in the brain react to a few large details such as the lines, edges and orientations within images rather than many smaller details.
"So what you get is a model where you have to remember fewer things but you still get very high predictive power — that’s what we’re interested in," says Bryan Daniels, a WID researcher who led the study.
Levels of sleep problems in the developing world are approaching those seen in developed nations, linked to an increase in problems like depression and anxiety.
According to the first ever pan-African and Asian analysis of sleep problems, led by Warwick Medical School at the University of Warwick, an estimated 150 million adults are suffering from sleep-related problems across the developing world.
The results are published in a study in the journal Sleep.
Source: The University of Warwick
The UT Dallas “tag and track” method not only sheds light on how DNA loops form, but also might be adapted to screen drugs for effectiveness against certain viruses that shuffle genetic material, such as HIV.
Until now, scientists primarily had “snapshots” of the initial and final stages of DNA loop formation, with only limited information about what happens during the intermediate steps.
"Scientists have known for more than 30 years that DNA looping is an important part of molecular biology and gene regulation, but until our work, there have been few serious attempts to understand the basic biophysics of the process, … We estimate that using fluorescence-based methods such as this for drug screening could be as much as 10,000 times more efficient than methods that are currently used," -Dr. Stephen Levene, professor of bioengineering, molecular and cell biology, and phyiscs at UT Dallas.
According to new research, meerkats enhance their intelligence through nine different social and asocial mechanisms. What really makes these animals stand out is their intelligent coordinated behaviour, which rivals that of chimps, baboons, dolphins and even humans in its complexity and efficiency.
A team led by William Hoppitt of the University of St. Andrews presented wild meerkats with a novel foraging task to investigate the animal’s learning mechanisms. ‘The model deals with the rate at which individuals interact with the task, solve the task once they are interacting with it, or give up on the task when they are manipulating it,’ said Hoppitt.
They found that the meerkats engaged in a wide variety of social and asocial behaviours to learn to solve the task, and that in general the social factors helped draw the meerkats into the task, while the asocial processes helped them actually solve the task.
The model may also be more broadly applicable and can be used to investigate the relationship between social learning mechanisms and so-called ‘behavioural traditions’ that together can constitute a culture.
Next Generation: In Vivo Drug Factories
By Sabrina Richards | August 13, 2012
Researchers use UV light to stimulate protein production in nano-sized delivery capsules in mice.
Nanoparticles expressing a GFP reporter.
Device: Science is one step closer to producing drugs in the right place at the right time in the body, avoiding the collateral damage of untargeted treatments. Researchers led by Daniel Anderson at the Massachusetts Institute of Technology have designed nanoparticles that can be stimulated via UV light to produce proteins on demand in vivo.
The new method, which involves packaging the molecular machinery for making proteins into a membraned capsule, allows the researchers to spatially and temporally regulate protein production, said Zhen Gu, who also researches nanoparticle drug delivery at North Carolina State and University of North Carolina, Chapel Hill, but did not participate in the research. “They can control generation of a protein at any time with a trigger of light.”
The scientists created the nano-sized “protein factories” by using lipids to encapsulate polymerase and other machinery necessary for protein production from E. coli, along with a DNA plasmid containing a gene of interest. To block transcription until the right moment, they added a DNA “photo-labile cage” to the plasmid—a small chemical that inhibits transcription but is cleaved by exposure to UV light.
To test the principle in vivo, the researchers used luciferase as the reporter protein and injected mice with the nanovesicles. After zapping them with UV light at the site of injection, they were able to measure a local burst of luminescence.
What’s new: Protein expression in liposomes has been possible for at least 10 years, said Mitchel Doktycz, a synthetic biologist at Oak Ridge National Laboratory in Tennessee. What is new, said Doktycz, who did not participate in the research, is being able to control the timing of protein expression in an animal. “They can do it remotely,” he said.
And that switch is not limited to UV light, added Gu, but will likely work with other wavelengths using different chemical ligands.
Avi Schroeder
Importance: Many life-saving drugs, such as chemotherapy, can have nasty and toxic effects outside the tissues they’re designed to treat. The goal of remotely-controlled factories like Anderson’s is to produce a drug in a specific place (such as a tumor) at a specific time (after enough particles have accumulated to produce a therapeutic effect). Anderson’s group is “trying to deliver a payload, [and] activate [it] in a specific spot, so they’re not dosing everywhere,” Doktycz explained—which has the potential to minimize side effects while maximizing therapeutic benefit.
Needs improvement: “We have a long way to go still before we have a drug factory that will land in a target tissue to produce a drug of interest,” noted Anderson. The study has proved the principle of the first step—getting the protein expressed on signal—but future research will need to ensure that the nanoparticles and the proteins they produce aren’t toxic in the wrong place, and that they get to the right location. Targeting the nanoparticles to the appropriate tissues might be achieved by “decorating” the surface of the vesicles with specific proteins, said Gu.
Furthermore, although most of the materials in the current particles are probably safe, some are microorganism-derived, Anderson pointed out, and most likely need to be switched to human alternatives. Finally, getting the drug expressed is also just one part of the problem, said Doktycz. So far the system has no way to re-cage the DNA to halt protein production when it’s no longer needed. “Turning on is one thing, but turning off is another,” he said.
(Source: the-scientist.com)
A new study from The University of Queensland shows monitoring the brain of stroke patients using Quantitative EEG (QEEG) studies could inform treatments and therefore, minimising brain damage of stroke victims.
“The main goals of this research were to evaluate key findings, identify common trends and determine what the future priorities should be, both for research and for translating this to best inform clinical management of stroke patients,” Dr Finnigan from UQ’s Centre for Clinical Research said.
The review of outcomes from hundreds of patients has highlighted that QEEG indicators are particularly informative in two ways.
“Firstly they can help predict long-term deficits caused by stroke, … In addition, they could provide immediate information on how patients are responding to treatments and guide decisions about follow-on treatments, even before stroke symptoms change,” Dr Finnigan said.