Study pinpoints cell type, brain region affected by gene mutations in autism

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Study pinpoints cell type, brain region affected by gene mutations in autism

Researchers have identified the disruption of a single type of cell — in a particular brain region and at a particular time in brain development — as a significant factor in the emergence of autism.

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Nov. 21, 2013 — A team led by UC San Francisco (UCSF) scientists has identified the disruption of a single type of cell — in a particular brain region and at a particular time in brain development — as a significant factor in the emergence of autism.The finding, reported in the Nov. 21 issue of Cell, was made with techniques developed only within the last few years and marks a turning point in autism spectrum disorders (ASDs) research.Large-scale gene-sequencing projects are revealing hundreds of autism-associated genes. Scientists have begun to leverage new methods to decipher how mutations in these disparate genes might converge to exert their effects in the developing brain.The new research focused on just nine genes, those most strongly associated with autism in recent sequencing studies, and investigated their effects using precise maps of gene expression during human brain development.Led by Jeremy Willsey, a graduate student in the laboratory of senior author Matthew W. State, MD, PhD, of UCSF, the group showed that this set of genes contributes to abnormalities in brain cells known as cortical projection neurons in the deepest layers of the developing prefrontal cortex, during the middle period of fetal development.Though a range of developmental scenarios in multiple brain regions is surely at work in ASDs, the researchers said the ability to place these specific genetic mutations in one specific set of cells — among hundreds of cell types in the brain, and at a specific point in human development — is a critical step in beginning to understand how autism comes about.”Given the small subset of autism genes we studied, I had no expectation that we would see the degree of spatiotemporal convergence that we saw,” said State, an international authority on the genetics of neurodevelopmental disorders.”This strongly suggests that, though there are hundreds of autism risk genes, the number of underlying biological mechanisms will be far fewer,” he said. “This is a very important clue to advance precision medicine for autism toward the development of personalized and targeted therapies.”Complex Genetic Architecture of ASDsASDs, which are marked by deficits in social interaction and language development, as well as by repetitive behaviors and/or restricted interests, are known to have a strong genetic component.But these disorders are exceedingly complex, with considerable variation in symptoms and severity, and little consistency in the mutations among affected individuals.Instead, with the rise of new sequencing methods over the past several years, researchers have identified many rare, non-inherited, spontaneous mutations that appear to act in combination with other genetic and non-genetic factors to cause ASDs. According to some estimates, mutations in as many as 1,000 genes could play a role in the development of these disorders.While researchers have been heartened that specific genes are now rapidly being tied to ASDs, State said the complex genetic architecture of ASDs is also proving to be challenging.”If there are 1,000 genes in the population that can contribute to risk in varying degrees and each has multiple developmental functions, it is not immediately obvious how to move forward to determine what is specifically related to autism,” State said. “Without this, it is very difficult to think about how to develop new and better medications,” he said.Focusing on Nine GenesTo begin to grapple with those questions, the researchers involved in the new study first selected as “seeds” the nine genes that have been most strongly tied to ASDs in recent sequencing research from their labs and others.Importantly, these nine genes were chosen solely because of the statistical evidence for a relationship to ASDs, not because their function was known to fit a theory of the cause of ASDs. “We asked where the leads take us, without any preconceived idea about where they should take us,” said State.The team then took advantage of BrainSpan, a digital atlas assembled by a large research consortium, including co-author Nenad Šestan, MD, PhD, and colleagues at Yale School of Medicine. Based on donated brain specimens, BrainSpan documents how and where genes are expressed in the human brain over the lifespan.The scientists, who also included Bernie Devlin, PhD, of The University of Pittsburgh School of Medicine; Kathryn Roeder, PhD, of Carnegie-Mellon University; and James Noonan, PhD, of Yale School of Medicine, used this tool to investigate when and where the nine seed genes join up with other genes in “co-expression networks” to wire up the brain or maintain its function.The resulting co-expression networks were then tested using a variety of pre-determined criteria to see whether they showed additional evidence of being related to ASDs. …

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Researchers pioneer first patient-specific 3-D virtual birth simulator

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Researchers pioneer first patient-specific 3-D virtual birth simulator

Computer scientists are working to create a virtual birthing simulator that will help doctors and midwives prepare for unusual or dangerous births. The new program will take into account factors such as the shape of the mother’s body and the positioning of the baby to provide patient-specific birth predictions.

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Nov. 22, 2013 — Computer scientists from the University of East Anglia are working to create a virtual birthing simulator that will help doctors and midwives prepare for unusual or dangerous births.Share This:The new program will take into account factors such as the shape of the mother’s body and the positioning of the baby to provide patient-specific birth predictions.The research will be presented at the International Conference on E-Health and Bioengineering in Romania.Dr Rudy Lapeer from UEA’s school of Computing Sciences is leading the project. He said: “We are creating a forward engineered simulation of childbirth using 3D graphics to simulate the sequence of movements as a baby descends through the pelvis during labor”Users will be able to input key anatomical data — such as the size and shape of the mother’s pelvis, and the baby’s head and torso. By doing this you will be able to set different bespoke scenarios for both the mother and baby.”The simulation software will see ultra-sound data used to re-create a geometric model of a baby’s skull and body in 3D graphics as well as the mother’s body and pelvis. Programers are also taking into account the force from the mother pushing during labor and are even modelling a ‘virtual’ midwife’s hands which can interact with the baby’s head.”Because this program is patient-specific, doctors and midwives will be able to see how a birth may take place before it has happened on a case-by-case basis. For example, you would be able to see if a baby’s shoulders will get stuck.”We hope that this could help to avoid complicated births altogether by guiding people in the medical profession to advise on caesarean sections where necessary.”Share this story on Facebook, Twitter, and Google:Other social bookmarking and sharing tools:|Story Source: The above story is based on materials provided by University of East Anglia. Note: Materials may be edited for content and length. For further information, please contact the source cited above. Need to cite this story in your essay, paper, or report? Use one of the following formats: APA MLA Note: If no author is given, the source is cited instead.

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Scientists invent self-healing battery electrode

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Scientists invent self-healing battery electrode

Researchers have made the first battery electrode that heals itself, opening a new and potentially commercially viable path for making the next generation of lithium ion batteries for electric cars, cell phones and other devices. The secret is a stretchy polymer that coats the electrode, binds it together and spontaneously heals tiny cracks that develop during battery operation, according to the research.

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Nov. 17, 2013 — Researchers have made the first battery electrode that heals itself, opening a new and potentially commercially viable path for making the next generation of lithium ion batteries for electric cars, cell phones and other devices. The secret is a stretchy polymer that coats the electrode, binds it together and spontaneously heals tiny cracks that develop during battery operation, said the team from Stanford University and the Department of Energy’s (DOE) SLAC National Accelerator Laboratory.They reported the advance in the Nov. 19 issue of Nature Chemistry.”Self-healing is very important for the survival and long lifetimes of animals and plants,” said Chao Wang, a postdoctoral researcher at Stanford and one of two principal authors of the paper. “We want to incorporate this feature into lithium ion batteries so they will have a long lifetime as well.”Chao developed the self-healing polymer in the lab of Stanford Professor Zhenan Bao, whose group has been working on flexible electronic skin for use in robots, sensors, prosthetic limbs and other applications. For the battery project he added tiny nanoparticles of carbon to the polymer so it would conduct electricity.”We found that silicon electrodes lasted 10 times longer when coated with the self-healing polymer, which repaired any cracks within just a few hours,” Bao said.”Their capacity for storing energy is in the practical range now, but we would certainly like to push that,” said Yi Cui, an associate professor at SLAC and Stanford who led the research with Bao. The electrodes worked for about 100 charge-discharge cycles without significantly losing their energy storage capacity. “That’s still quite a way from the goal of about 500 cycles for cell phones and 3,000 cycles for an electric vehicle,” Cui said, “but the promise is there, and from all our data it looks like it’s working.”Researchers worldwide are racing to find ways to store more energy in the negative electrodes of lithium ion batteries to achieve higher performance while reducing weight. One of the most promising electrode materials is silicon; it has a high capacity for soaking up lithium ions from the battery fluid during charging and then releasing them when the battery is put to work.But this high capacity comes at a price: Silicon electrodes swell to three times normal size and shrink back down again each time the battery charges and discharges, and the brittle material soon cracks and falls apart, degrading battery performance. This is a problem for all electrodes in high-capacity batteries, said Hui Wu, a former Stanford postdoc who is now a faculty member at Tsinghua University in Beijing, the other principal author of the paper.To make the self-healing coating, scientists deliberately weakened some of the chemical bonds within polymers — long, chain-like molecules with many identical units. …

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Large graphene crystals with exceptional electrical properties created

Celebrities Who Battled Mesothelioma The cancer community is all to familiar…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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Large graphene crystals with exceptional electrical properties created

Researchers are using oxygen to grow large single graphene crystals on copper. Large single-crystal graphene is of great interest because the grain boundaries in polycrystalline material have defects, and eliminating such defects makes for a better material.

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Nov. 14, 2013 — When it comes to the growth of graphene — an ultrathin, ultrastrong, all-carbon material — it is survival of the fittest, according to researchers at The University of Texas at Austin.The team used surface oxygen to grow centimeter-size single graphene crystals on copper. The crystals were about 10,000 times as large as the largest crystals from only four years ago. Very large single crystals have exceptional electrical properties.”The game we play is that we want nucleation (the growth of tiny ‘crystal seeds’) to occur, but we also want to harness and control how many of these tiny nuclei there are, and which will grow larger,” said Rodney S. Ruoff, professor in the Cockrell School of Engineering. “Oxygen at the right surface concentration means only a few nuclei grow, and winners can grow into very large crystals.”The team — led by postdoctoral fellow Yufeng Hao and Ruoff of the Department of Mechanical Engineering and the Materials Science and Engineering Program, along with Luigi Colombo, a material scientist with Texas Instruments — worked for three years on the graphene growth method. The team’s paper, “The Role of Surface Oxygen in the Growth of Large Single-Crystal Graphene on Copper,” is featured on the cover of the Nov. 8, 2013, issue of Science.One of the world’s strongest materials, graphene is flexible and has high electrical and thermal conductivity that makes it a promising material for flexible electronics, solar cells, batteries and high-speed transistors. The team’s understanding of how graphene growth is influenced by differing amounts of surface oxygen is a major step toward improved high-quality graphene films at industrial scale.The team’s method “is a fundamental breakthrough, which will lead to growth of high-quality and large area graphene film,” said Sanjay Banerjee, who heads the Cockrell School’s South West Academy of Nanoelectronics (SWAN). “By increasing the single-crystal domain sizes, the electronic transport properties will be dramatically improved and lead to new applications in flexible electronics.”Graphene has always been grown in a polycrystalline form, that is, it is composed of many crystals that are joined together with irregular chemical bonding at the boundaries between crystals (“grain boundaries”), something like a patch-work quilt. …

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Warming since 1950s partly caused by El Niño

My secret for surviving with mesothelioma! Frequently I get asked what is…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for …

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Warming since 1950s partly caused by El Niño

A natural shift to stronger warm El Niño events in the Pacific Ocean might be responsible for a substantial portion of the global warming recorded during the past 50 years, according to new research.

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Nov. 13, 2013 — A natural shift to stronger warm El Niño events in the Pacific Ocean might be responsible for a substantial portion of the global warming recorded during the past 50 years, according to new research at The University of Alabama in Huntsville (UAH).“Our modeling shows that natural climate cycles explain at least part of the ocean warming we’ve seen since the 1950s,” said Dr. Roy Spencer, a principal research scientist in UAH’s Earth System Science Center and the new study’s lead author. “But we also found that because the globe has had more frequent La Niña cooling events in the past 10 or 15 years, they are canceling out some of the effects of global warming.”The paper detailing this research, “The Role of ENSO in Global Ocean Temperature Changes During 1955-2011 Simulated with a 1D Climate Model,” is scheduled for publication in the Asia-Pacific Journal of Atmospheric Science.The results also suggest the world will warm by 1.3 C (about 2.34° F) from a doubling of atmospheric CO2, which is only one-half of the warming expected by most climate researchers.General circulation climate models – such as those used to forecast global climate change – do not reproduce the tendency toward 30 year periods of stronger El Niño or La Niña activity, as are seen in nature.Spencer and co-author Dr. Danny Braswell used all of the usual climate modeling forcings – including carbon dioxide and other greenhouse gas enrichment – in their study, but also plugged the observed history of El Niño ocean warming and La Niña ocean cooling events into their model to calculate the 61-year change in global ocean temperature averages from the sea surface to a depth of 2,000 meters.“We used the observed ENSO (El Niño Southern Oscillation) history since the 1950s as a pseudo forcing factor of the model,” Spencer said.When they ran their ocean model without ENSO, they arrived at the same general conclusions as the more complex general circulation climate models. When they added data from past El Niño and La Niña events as only a change in ocean mixing, the model indicated a climate system that is slightly less sensitive to CO2-induced warming than has been believed.But the biggest change was when the model was allowed to change cloud cover with El Niño and La Niña in the same way as has been observed from satellites. The results suggest that these natural climate cycles change the total amount of energy received from the sun, providing a natural warming and cooling mechanism of the surface and the deep ocean on multi-decadal time scales.“As a result, because as much as 50 percent of the warming since the 1970s could be attributed to stronger El Niño activity, it suggests that the climate system is only about half as sensitive to increasing CO2 as previously believed,” Spencer said.“Basically, previously it was believed that if we doubled the CO2 in the atmosphere, sea surface temperatures would warm about 2.5 C,” Spencer said. That’s 4.5° F. “But when we factor in the ENSO warming, we see only a 1.3 C (about 2.3° F) final total warming after the climate system has adjusted to having twice as much CO2.”It was previously known that Pacific Ocean warming and cooling events come and go in roughly 30-year periods of predominance, where El Niño warming events are stronger than La Niño cooling events for approximately 30 years, followed by roughly three decades where the reverse is true.During the period of this study, cooling events were dominant from the 1950s into the late 1970s. That was followed by a period of strong El Niño warming activity that lasted into the early 2000s. …

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Genetic study demonstrates Israel’s wild boars originated in Europe

November Advocate of the Month – Working With & For Mesothelioma…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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Genetic study demonstrates Israel’s wild boars originated in Europe

Scientists had no reason to suspect Israeli wild boars were any different than their brothers and sisters roaming the Middle East. Now, a researcher demonstrates that, unlike the Near Eastern wild boars in surrounding countries, Israel’s wild boars originated in Europe, brought to Israel starting almost 3,000 years ago by the Philistines and other seafaring raiders.

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Nov. 4, 2013 — Wild boars look more or less the same in Israel as they do anywhere else: stalky and hairy with big heads, long snouts, and beady eyes. So scientists had no reason to suspect Israeli wild boars were any different than their brothers and sisters roaming the Middle East, from Egypt to Iran.Now, in a new study Prof. Israel Finkelstein and Dr. Meirav Meiri of Tel Aviv University’s Department of Archaeology and Ancient Near East Civilizations together with Dr. Lidar Sapir-Hen from the same department and Dr. Dorothee Huchon of TAU’s Department of Zoology have found that, unlike the Near Eastern wild boars in surrounding countries, Israel’s wild boars originated in Europe. After a genetic and archaeological analysis, the researchers suggest the wild boars living in Israel are descendants of domesticated pigs brought to Israel starting almost 3,000 years ago by the Philistines and other seafaring raiders.The findings were published this week in Scientific Reports. Prof. Steve Weiner and Dr. …

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Model virus structure shows why there’s no cure for common cold

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Model virus structure shows why there’s no cure for common cold

In a pair of landmark studies that exploit the genetic sequencing of the “missing link” cold virus, rhinovirus C, scientists have constructed a three-dimensional model of the pathogen that shows why there is no cure yet for the common cold.

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Oct. 28, 2013 — n a pair of landmark studies that exploit the genetic sequencing of the “missing link” cold virus, rhinovirus C, scientists at the University of Wisconsin-Madison have constructed a three-dimensional model of the pathogen that shows why there is no cure yet for the common cold.Writing today (Oct. 28, 2013) in the journal Virology, a team led by UW-Madison biochemistry Professor Ann Palmenberg provides a meticulous topographical model of the capsid or protein shell of a cold virus that until 2006 was unknown to science.Rhinovirus C is believed to be responsible for up to half of all childhood colds, and is a serious complicating factor for respiratory conditions such as asthma. Together with rhinoviruses A and B, the recently discovered virus is responsible for millions of illnesses yearly at an estimated annual cost of more than $40 billion in the United States alone.The work is important because it sculpts a highly detailed structural model of the virus, showing that the protein shell of the virus is distinct from those of other strains of cold viruses.“The question we sought to answer was how is it different and what can we do about it? We found it is indeed quite different,” says Palmenberg, noting that the new structure “explains most of the previous failures of drug trials against rhinovirus.”The A and B families of cold virus, including their three-dimensional structures, have long been known to science as they can easily be grown and studied in the lab. Rhinovirus C, on the other hand, resists culturing and escaped notice entirely until 2006 when “gene chips” and advanced gene sequencing revealed the virus had long been lurking in human cells alongside the more observable A and B virus strains.The new cold virus model was built “in silico,” drawing on advanced bioinformatics and the genetic sequences of 500 rhinovirus C genomes, which provided the three-dimensional coordinates of the viral capsid.“It’s a very high-resolution model,” notes Palmenberg, whose group along with a team from the University of Maryland was the first to map the genomes for all known common cold virus strains in 2009. “We can see that it fits the data.”With a structure in hand, the likelihood that drugs can be designed to effectively thwart colds may be in the offing. Drugs that work well against the A and B strains of cold virus have been developed and advanced to clinical trials. However, their efficacy was blunted because they were built to take advantage of the surface features of the better known strains, whose structures were resolved years ago through X-ray crystallography, a well-established technique for obtaining the structures of critical molecules.Because all three cold virus strains all contribute to the common cold, drug candidates failed as the surface features that permit rhinovirus C to dock with host cells and evade the immune system were unknown and different from those of rhinovirus A and B.Based on the new structure, “we predict you’ll have to make a C-specific drug,” explains Holly A. Basta, the lead author of the study and a graduate student working with Palmenberg in the UW-Madison Institute for Molecular Virology. …

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Nurturing may protect kids from brain changes linked to poverty

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Nurturing may protect kids from brain changes linked to poverty

Researchers have identified changes in the brains of children growing up in poverty. Those changes can lead to lifelong problems like depression, learning difficulties and limitations in the ability to cope with stress. But the study showed that the extent of those changes was influenced strongly by whether parents were attentive and nurturing.

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Oct. 28, 2013 — Growing up in poverty can have long-lasting, negative consequences for a child. But for poor children raised by parents who lack nurturing skills, the effects may be particularly worrisome, according to a new study at Washington University School of Medicine in St. Louis.Among children living in poverty, the researchers identified changes in the brain that can lead to lifelong problems like depression, learning difficulties and limitations in the ability to cope with stress. The study showed that the extent of those changes was influenced strongly by whether parents were nurturing.The good news, according to the researchers, is that a nurturing home life may offset some of the negative changes in brain anatomy among poor children. And the findings suggest that teaching nurturing skills to parents — particularly those living in poverty — may provide a lifetime benefit for their children.The study is published online Oct. 28 and will appear in the November issue of JAMA Pediatrics.Using magnetic resonance imaging (MRI), the researchers found that poor children with parents who were not very nurturing were likely to have less gray and white matter in the brain. Gray matter is closely linked to intelligence, while white matter often is linked to the brain’s ability to transmit signals between various cells and structures.The MRI scans also revealed that two key brain structures were smaller in children who were living in poverty: the amygdala, a key structure in emotional health, and the hippocampus, an area of the brain that is critical to learning and memory.”We’ve known for many years from behavioral studies that exposure to poverty is one of the most powerful predictors of poor developmental outcomes for children,” said principal investigator Joan L. Luby, MD, a Washington University child psychiatrist at St. Louis Children’s Hospital. …

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Nurturing may protect kids from brain changes linked to poverty

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Heavy air pollution in Canadian area with cancer spikes

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Heavy air pollution in Canadian area with cancer spikes

Levels of contaminants higher than in some of the world’s most polluted cities have been found downwind of Canada’s largest oil, gas and tar sands processing zone, in a rural area where men suffer elevated rates of cancers linked to such chemicals.

via ScienceDaily: Top Health News:

Oct. 22, 2013 — Levels of contaminants higher than in some of the world’s most polluted cities have been found downwind of Canada’s largest oil, gas and tar sands processing zone, in a rural area where men suffer elevated rates of cancers linked to such chemicals.The findings by UC Irvine and University of Michigan scientists, published online this week, reveal high levels of the carcinogens 1,3-butadiene and benzene and other airborne pollutants. The researchers also obtained health records spanning more than a decade that showed the number of men with leukemia and non-Hodgkin’s lymphoma was greater in communities closest to the pollution plumes than in neighboring counties. The work is a dramatic illustration of a new World Health Organization report that outdoor air pollution is a leading cause of cancer.While the scientists stopped short of saying that the pollutants they documented were definitely causing the male cancers, they strongly recommended that the industrial emissions be decreased to protect both workers and nearby residents.”Our study was designed to test what kinds of concentrations could be encountered on the ground during a random visit downwind of various facilities. We’re seeing elevated levels of carcinogens and other gases in the same area where we’re seeing excess cancers known to be caused by these chemicals,” said UC Irvine chemist Isobel Simpson, lead author of the paper in Atmospheric Environment. “Our main point is that it would be good to proactively lower these emissions of known carcinogens. You can study it and study it, but at some point you just have to say, ‘Let’s reduce it.’ “Co-author Stuart Batterman, a University of Michigan professor of environmental health sciences, agreed: “These levels, found over a broad area, are clearly associated with industrial emissions. They also are evidence of major regulatory gaps in monitoring and controlling such emissions and in public health surveillance.”The researchers captured emissions in the rural Fort Saskatchewan area downwind of major refineries, chemical manufacturers and tar sands processors owned by BP, Dow, Shell and other companies in the so-called “Industrial Heartland” of Alberta. They took one-minute samples at random times in 2008, 2010 and 2012. All showed similar results. …

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Heavy air pollution in Canadian area with cancer spikes

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Heavy air pollution in Canadian area with cancer spikes

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