Children get their sense of humour from their parents as a study has found babies as young as six months learn to laugh at the same thing as their mothers and fathers.
Articles and news from the latest research reports.
Master gene affects neurons that govern breathing at birth and adulthood
When mice are born lacking the master gene Atoh1, none breathe well and all die in the newborn period. Why and how this occurs could provide new answers about sudden infant death syndrome (SIDS), but the solution has remained elusive until now.
Research led by Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital demonstrates that when the gene is lacking in a special population of neurons called RTN (retrotrapezoid nucleus), roughly half the young mice die at birth. Those who survive are less likely to respond to excess levels of carbon dioxide as adults. A report of their work appears online in the journal Neuron.
"The death of mice at birth clued us in that Atoh1 must be needed for the function of some neurons critical for neonatal breathing, so we set out to define these neurons," said Dr. Huda Zoghbi, senior author of the report and director of the Neurological Research Institute and a professor of molecular and human genetics, neuroscience, neurology and pediatrics at BCM. Zoghbi is also a Howard Hughes Medical Institute investigator.
"We took a genetic approach to find the critical neurons," said Wei-Hsiang Huang, a graduate student in the Program in Developmental Biology at BCM who works in Zoghbi’s laboratory. With careful studies to "knockout" the activity of the gene in a narrower and narrower area in the brain, they slowly eliminated possible neurons to determine that loss of Atoh1 in the RTN neurons was the source of the problem.
"Discovering that Atoh1 is indeed critical for the RTN neurons to take their right place in the brainstem and connect with the breathing center helped us uncover why they are important for neonatal breathing," said Zoghbi.
"This population of neurons resides in the ventral brainstem," said Huang. "When there is a change in the makeup of the blood (lack of oxygen or buildup of carbon dioxide), the RTN neurons sense that and tell the body to change the way it breathes." A defect in these neurons can disrupt this response.
"Without Atoh1 the mice have significant breathing problems because they do not automatically adjust their breathing to decrease carbon dioxide and oxygenate the blood," he said.
It turns out the findings from this mouse study are relevant to human studies.
"A paper just published reports that developmental abnormalities in the RTN neurons of children with sudden infant death syndrome or sudden unexplained intrauterine death may be linked to altered ventilatory response to carbon dioxide", said Huang (Lavezzi, A.M., et al., Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death, Auton. Neurosci. (2012), doi:10.1016/j.autneu.2012.06.005).
(Source: bcm.edu)
Previously existing ideas on how advanced maternal age affects adult health of children have to be reconsidered. It had been thought that mothers delivering later in life have children that are less healthy as adults, because the body of the mother had already degenerated due to physiological effects like decreasing oocyte quality or a weakened placenta. In fact, what affects the health of the grown-up children is not the age of their mother but her education and the number of years she survives after giving birth and thus spends with her offspring. This is the conclusion of a new study by Mikko Myrskylä from the Max Planck Institute for Demographic Research in Rostock, Germany carried out with data from 18,000 US children and their mothers.
Researchers use characteristic differences in eye movements to identify patients with deficits in neurological function.
Observing patients’ eye movements may hold clues about neurological functioning. In a study published last month (August 25) in the Journal of Neurology, scientists show that subtle differences in eye movement patterns can be utilized to identify patients with Parkinson’s, fetal alcohol syndrome, or attention deficit disorder, providing hope for a quick and noninvasive strategy to aid in diagnosing these, and possibly other, neurological diseases.
“I am very impressed with the use of this eye tracking as a potential behavioral biomarker,” said Edward Riley, who studies fetal alcohol syndrome at San Diego State University, but did not participate in the research. The strategy could one day be used to rapidly screen children at risk for behavioral problems, he added, but whose mild symptoms may cause their issues to be overlooked.
Every activity in the brain involves the transfer of signals between neurons. Frequently, as many as one thousand signals rain down on a single neuron simultaneously. To ensure that precise signals are delivered, the brain possesses a sophisticated inhibitory system. Stefan Remy and colleagues at the German Center for Neurodegenerative Diseases and the University Bonn have illuminated how this system works.
“The system acts like a filter, only letting the most important impulses pass,” explains Remy. “This produces the targeted neuronal patterns that are indispensible for long-term memory storage.”
A new study led by MIT neuroscientists has found that brain scans of patients with social anxiety disorder can help predict whether they will benefit from cognitive behavioral therapy.
Social anxiety is usually treated with either cognitive behavioral therapy or medications. However, it is currently impossible to predict which treatment will work best for a particular patient. The team of researchers from MIT, Boston University (BU) and Massachusetts General Hospital (MGH) found that the effectiveness of therapy could be predicted by measuring patients’ brain activity as they looked at photos of faces, before the therapy sessions began.
The findings, published this week in the Archives of General Psychiatry, may help doctors choose more effective treatments for social anxiety disorder, which is estimated to affect around 15 million people in the United States.
Nutritional Supplement Offers Promise in Treatment of Unique Form of Autism
In mice, added amino acid reduced associated epilepsy, eased neurobehavioral symptom
An international team of researchers, led by scientists at the University of California, San Diego and Yale University schools of medicine, have identified a form of autism with epilepsy that may potentially be treatable with a common nutritional supplement.
The findings are published in the September 6, 2012 online issue of Science.
Roughly one-quarter of patients with autism also suffer from epilepsy, a brain disorder characterized by repeated seizures or convulsions over time. The causes of the epilepsy are multiple and largely unknown. Using a technique called exome sequencing, the UC San Diego and Yale scientists found that a gene mutation present in some patients with autism speeds up metabolism of certain amino acids. These patients also suffer from epileptic seizures. The discovery may help physicians diagnose this particular form of autism earlier and treat sooner.
The researchers focused on a specific type of amino acid known as branched chain amino acids or BCAAs. BCAAs are not produced naturally in the human body and must be acquired through diet. During periods of starvation, humans have evolved a means to turn off the metabolism of these amino acids. It is this ability to shut down that metabolic activity that researchers have found to be defective in some autism patients.
“It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism,” said senior author Joseph G. Gleeson, MD, professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator. “What was most exciting was that the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack.”
Gleeson and colleagues used the emerging technology of exome sequencing to study two closely related families that have children with autism spectrum disorder. These children also had a history of seizures or abnormal electrical brain wave activity, as well as a mutation in the gene that regulates BCAAs. In exome sequencing, researchers analyze all of the elements in the genome involved in making proteins.
In addition, the scientists examined cultured neural stem cells from these patients and found they behaved normally in the presence of BCAAs, suggesting the condition might be treatable with nutritional supplementation. They also studied a line of mice engineered with a mutation in the same gene, which showed the condition was both inducible by lowering the dietary intake of the BCAAs and reversible by raising the dietary intake. Mice treated with BCAA supplementation displayed improved neurobehavioral symptoms, reinforcing the idea that the approach could work in humans as well.
“Studying the animals was key to our discovery,” said first author Gaia Novarino, PhD, a staff scientist in Gleeson’s lab. “We found that the mice displayed a condition very similar to our patients, and also had spontaneous epileptic seizures, just like our patients. Once we found that we could treat the condition in mice, the pressing question was whether we could effectively treat our patients.”
Using a nutritional supplement purchased at a health food store at a specific dose, the scientists reported that they could correct BCAA levels in the study patients with no ill effect. The next step, said Gleeson, is to determine if the supplement helps reduce the symptoms of epilepsy and/or autism in humans.
“We think this work will establish a basis for future screening of all patients with autism and/or epilepsy for this or related genetic mutations, which could be an early predictor of the disease,” he said. “What we don’t know is how many patients with autism and/or epilepsy have mutations in this gene and could benefit from treatment, but we think it is an extremely rare condition.”
What determines whether you deal with new situations in a flexible manner or simply act out of habit? A team of psychologists have discovered that this is predicted by the strength of specific connections in the brain. It can therefore be seen in your brain whether you act consciously or on automatic pilot. An understanding of this is relevant for the treatment of drug addicts and compulsive patients, for example. Dr Sanne de Wit, Poppy Watson and professor Richard Ridderinkhof from the University of Amsterdam led the research that was funded by NWO. The renowned Journal of Neuroscience published the research results on 29 August 2012.
![According to ENCODE’s analysis, 80 percent of the genome has a “biochemical function”. More on exactly what this means later, but the key point is: It’s not “junk”.
Scientists have long recognised that some non-coding DNA has a function, and more and more solid examples have come to light [edited for clarity - Ed]. But, many maintained that much of these sequences were, indeed, junk. ENCODE says otherwise. “Almost every nucleotide is associated with a function of some sort or another, and we now know where they are, what binds to them, what their associations are, and more,” says Tom Gingeras, one of the study’s many senior scientists.
And what’s in the remaining 20 percent? Possibly not junk either, according to Ewan Birney, the project’s Lead Analysis Coordinator and self-described “cat-herder-in-chief”. He explains that ENCODE only (!) looked at 147 types of cells, and the human body has a few thousand. A given part of the genome might control a gene in one cell type, but not others. If every cell is included, functions may emerge for the phantom proportion. “It’s likely that 80 percent will go to 100 percent,” says Birney. “We don’t really have any large chunks of redundant DNA. This metaphor of junk isn’t that useful.”
That the genome is complex will come as no surprise to scientists, but ENCODE does two fresh things: it catalogues the DNA elements for scientists to pore over; and it reveals just how many there are. “The genome is no longer an empty vastness – it is densely packed with peaks and wiggles of biochemical activity,” says Shyam Prabhakar from the Genome Institute of Singapore. “There are nuggets for everyone here. No matter which piece of the genome we happen to be studying in any particular project, we will benefit from looking up the corresponding ENCODE tracks.”](http://41.media.tumblr.com/tumblr_m9y0xaewSN1rog5d1o1_500.jpg)
According to ENCODE’s analysis, 80 percent of the genome has a “biochemical function”. More on exactly what this means later, but the key point is: It’s not “junk”.
Scientists have long recognised that some non-coding DNA has a function, and more and more solid examples have come to light [edited for clarity - Ed]. But, many maintained that much of these sequences were, indeed, junk. ENCODE says otherwise. “Almost every nucleotide is associated with a function of some sort or another, and we now know where they are, what binds to them, what their associations are, and more,” says Tom Gingeras, one of the study’s many senior scientists.
And what’s in the remaining 20 percent? Possibly not junk either, according to Ewan Birney, the project’s Lead Analysis Coordinator and self-described “cat-herder-in-chief”. He explains that ENCODE only (!) looked at 147 types of cells, and the human body has a few thousand. A given part of the genome might control a gene in one cell type, but not others. If every cell is included, functions may emerge for the phantom proportion. “It’s likely that 80 percent will go to 100 percent,” says Birney. “We don’t really have any large chunks of redundant DNA. This metaphor of junk isn’t that useful.”
That the genome is complex will come as no surprise to scientists, but ENCODE does two fresh things: it catalogues the DNA elements for scientists to pore over; and it reveals just how many there are. “The genome is no longer an empty vastness – it is densely packed with peaks and wiggles of biochemical activity,” says Shyam Prabhakar from the Genome Institute of Singapore. “There are nuggets for everyone here. No matter which piece of the genome we happen to be studying in any particular project, we will benefit from looking up the corresponding ENCODE tracks.”
Can Videogaming Benefit Young People with Autism Spectrum Disorder?
Individuals with ASD have difficulty with communication and social interaction, but they often have particularly good visual perceptual skills and respond well to visual stimuli. Videogames offer opportunities for successful learning, motivation to improve skills such as planning, organization, and self-monitoring, and reinforcement of desired behaviors without the need for direct human-to-human interaction.
Autism is a growing area of interest for the gamification community, and Games for Health Journal continues to explore various aspects of how videogame technology can be beneficial in treating this complex spectrum of disorders.