Genes implicated in autism and other human diseases are prone to frequent mutations, according to a study published by Cell Press on December 20th in the journal Cell. The study suggests that elevated mutation rates in certain parts of the genome contribute to disease risk in humans. "Some disease-related genes are gluttons for punishment," says senior study author Jonathan Sebat of the University of California, San Diego. "Despite the fact that these genes are important for normal human development, they appear to be getting hammered with mutations." Neurodevelopmental ...

An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than the rest of the genome. Genes that are linked to autism and a variety of other disorders have a particularly strong tendency to mutate. Clusters of mutations or "hotspots" are not unique ...

PHILADELPHIA — The use of androgen deprivation therapies to prevent precancerous prostate abnormalities developing into aggressive prostate cancer may have adverse effects in men with precancers with specific genetic alterations, according to data from a preclinical study recently published in Cancer Discovery, a journal of the American Association for Cancer Research. "The growth and survival of prostate cancer cells are very dependent on signals that the cancer cells receive from a group of hormones, called androgens, which includes testosterone," said Thomas R. Roberts, ...

KANSAS CITY, MO – For a tiny embryo to grow into an entire fruit fly, mouse or human, the correct genes in each cell must turn on and off in precisely the right sequence. This intricate molecular dance produces the many parts of the whole creature, from muscles and skin to nerves and blood. So what are the underlying principles of how those genes are controlled and regulated? At the most basic level, scientists know, genes are turned on when an enzyme called RNA polymerase binds to the DNA at the beginning of a gene. The RNA polymerase copies the DNA of the gene into ...

SAN FRANCISCO, CA—December 20, 2012—Scientists at the Gladstone Institutes have mapped the molecular mechanism by which a virus known as cytomegalovirus (CMV) so successfully infects its hosts. This discovery paves the way for new research avenues aimed at fighting this and other seemingly benign viruses that can turn deadly. Not all viruses are created equal. Some ravage the body quickly, while others—after an initial infection—lie dormant for decades. CMV is one of the eight types of human herpes viruses, a family of viruses that also include Epstein-Barr virus (which ...

In a discovery that may prove important for cognitive science, our understanding of nature and applications for robot vision, researchers at the University of Adelaide have found evidence that the dragonfly is capable of higher-level thought processes when hunting its prey. The discovery, to be published online today in the journal Current Biology, is the first evidence that an invertebrate animal has brain cells for selective attention, which has so far only been demonstrated in primates. Dr Steven Wiederman and Associate Professor David O'Carroll from the University ...

A coherent pathway which starts from no more than rocks, water and carbon dioxide and leads to the emergence of the strange bio-energetic properties of living cells, has been traced for the first time in a major hypothesis paper in Cell this week. At the origin of life the first protocells must have needed a vast amount of energy to drive their metabolism and replication, as enzymes that catalyse very specific reactions were yet to evolve. Most energy flux must have simply dissipated without use. So where did it all that energy come from on the early Earth, and how ...

Boston, Mass.—A set of proteins detected in urine by researchers at Boston Children's Hospital may prove to be the first biomarkers for Kawasaki disease, an uncommon but increasingly prevalent disease which causes inflammation of blood vessels that can lead to enlarged coronary arteries and even heart attacks in some children. If validated in more patients with Kawasaki disease, the markers could make the disease easier to diagnose and give doctors an opportunity to start treatment earlier. The discovery was reported online by a team led by members of the Proteomics Center ...

New York, NY (December 20, 2012) — By analyzing tissues harvested from organ donors, Columbia University Medical Center (CUMC) researchers have created the first ever "atlas" of immune cells in the human body. Their results provide a unique view of the distribution and function of T lymphocytes in healthy individuals. In addition, the findings represent a major step toward development of new strategies for creating vaccines and immunotherapies. The study was published today in the online edition of the journal Immunity. T cells, a type of white blood cell, play a major ...

For all their promise, solar cells have frustrated scientists in one crucial regard – most are rigid. They must be deployed in stiff, often heavy, fixed panels, limiting their applications. So researchers have been trying to get photovoltaics to loosen up. The ideal: flexible, decal-like solar panels that can be peeled off like band-aids and stuck to virtually any surface, from papers to window panes. Now the ideal is real. Stanford researchers have succeeded in developing the world's first peel-and-stick thin-film solar cells. The breakthrough is described in a ...

Asking all commuters to cut back on rush-hour driving reduces traffic congestion somewhat, but asking specific groups of drivers to stay off the road may work even better. The conclusion comes from a new analysis by engineers from the Massachusetts Institute of Technology and the University of California, Berkeley, that was made possible by their ability to track traffic using commuters' cellphone and GPS signals. This is the first large-scale traffic study to track travel using anonymous cellphone data rather than survey data or information obtained from U.S. Census ...

DALLAS – Dec. 20, 2012 – UT Southwestern Medical Center researchers have pinpointed a molecular mechanism needed to unleash the heart's ability to regenerate, a critical step toward developing eventual therapies for damage suffered following a heart attack. Cardiologists and molecular biologists at UT Southwestern, teaming up to study in mice how heart tissue regenerates, found that microRNAs – tiny strands that regulate gene expression – contribute to the heart's ability to regenerate up to one week after birth. Soon thereafter the heart loses the ability to regenerate. ...

This press release is available in German. Waves do not spread in a disordered medium if there is less than one wavelength between two defects. Physicists from the universities of Zurich and Constance have now proved Nobel Prize winner Philip W. Anderson's theory directly for the first time using the diffusion of light in a cloudy medium. Light cannot spread in a straight line in a cloudy medium like milk because the many droplets of fat divert the light as defects. If the disorder – the concentration of defects – exceeds a certain level, the waves are no longer ...

With the purpose of developing new biological methods to control one of the major pests affecting the southwest Europe pine stands, a joint collaboration leaded by the Instituto Nacional de Investigação Agrária e Veterinária, Portugal (R. Petersen-Silva, P. Naves, E. Sousa), together with the Universidad de Barcelona, Spain (J. Pujade-Villar) and a member of the Museum and Institute of Zoology from the Polish Academy of Sciences, Poland, (S. Belokobylskij) initiated a research to detect the parasitoid guild of the Pine Wood Nematode (PWN) vector, Monochamus galloprovincialis ...

From a single-cell egg to a fully functional body: as embryos develop and grow, they must form organs that are in proportion to the overall size of the embryo. The exact mechanism underlying this fundamental characteristic, called scaling, is still unclear. However, a team of researchers from EMBL Heidelberg is now one step closer to understanding it. They have discovered that scaling of the future vertebrae in a mouse embryo is controlled by how the expression of some specific genes oscillates, in a coordinated way, between neighbouring cells. Published today in Nature, ...

The first report on the chemical substitution, or doping, using silver atoms, for a new class of superconductor that was only discovered this year, is about to be published in EPJ B. Chinese scientists from Institute of Solid State Physics, Chinese Academy of Sciences, Hefei, discovered that the superconductivity is intrinsic rather than created by impurities in this material with a sandwich-style layered structure made of bismuth oxysulphide (Bi4O4S3). Superconductors with a transition temperature (TC) above the boiling temperature of liquid nitrogen (77 kelvins or −196 ...

The study conducted by the Vall d'Hebron Institute of Oncology (VHIO) in conjunction with the GEICAM cooperative group and other American and Canadian researchers has led to a change in the definition of hormone-sensitive breast tumours. Barcelona, 20 December 2012. Gene expression in breast cancer provides valuable biological information for better determining the diagnosis, treatment, risk of relapse and survival rate. However, the most common form of characterizing breast cancer is by histopathological techniques. This study, headed by Dr Aleix Prat, Head of the Translational ...

The research group of Professor Petri Pihko at the Department of Chemistry and the NanoScience Center of the University of Jyväskylä has solved two acute problems in chemical catalysis. The research has been funded by the Academy of Finland. In the first project, the researchers designed a novel intramolecularly assisted catalyst for the synthesis of beta amino acids. Previously published catalysts work only with aromatic side chains in the imines, but the new catalyst designed at Jyväskylä does not have this limitation. The new method might find uses in the synthesis ...

Bethesda, MD—A drug currently being used to treat ischemic strokes may prove to be a significant advance in the treatment of tuberculosis and ulcers. In a new research report appearing online in The FASEB Journal, a compound called ebselen effectively inhibits the thioredoxin reductase system in a wide variety of bacteria, including Helicobacter pylori which causes gastric ulcers and Mycobacterium tuberculosis which causes tuberculosis. Thioredoxin and thioredoxin reductase proteins are essential for bacteria to make new DNA, and protect them against oxidative stress caused ...

Athens, Ga. – New research from the University of Georgia identifies the mechanisms responsible for regenerating blood vessels in the brain. Looking for ways to improve outcomes for stroke patients, researchers led by the UGA College of Pharmacy assistant dean for clinical programs Susan Fagan used candesartan, a commonly prescribed medication for lowering blood pressure, to identify specific growth factors in the brain responsible for recovery after a stroke. The results were published online Dec. 4 in the Journal of Pharmacology and Experimental Therapeutics. Although ...

Philadelphia, Pa. (December 20, 2012) – Robotic technologies have the potential to help neurosurgeons perform precise, technically demanding operations, together with virtual reality environments to help them navigate through the brain, according to a special supplement to Neurosurgery, official journal of the Congress of Neurological Surgeons. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health. "Virtual Reality (VR) and robotics are two rapidly expanding fields with growing application within neurosurgery," according to an introductory ...

Researchers at the Niels Bohr Institute have demonstrated that photons (light particles) emitted from light sources embedded in a complex and disordered structure are able to mutually coordinate their paths through the medium. This is a consequence of the photons' wave properties, which give rise to the interaction between different possible routes. The results are published in the scientific journal, Physical Review Letters. The real world is complex and messy. The research field of photonics, which explores and exploits light, is no exception, and in, for example, biological ...

Some European wolves have a distinct preference for wild boar over other prey, according to new research. Scientists from Durham University, UK, in collaboration with the University of Sassari in Italy, found that the diet of wolves was consistently dominated by the consumption of wild boar which accounted for about two thirds of total prey biomass, with roe deer accounting for around a third. The study analysed the remains of prey items in almost 2000 samples of wolf dung over a nine year period and revealed that an increase in roe deer in the wolf diet only occurred ...

A researcher at the Auburn University Museum of Natural History and Department of Biological Sciences has reported the discovery 33 new trapdoor spider species from the American Southwest. These newly described species all belong to the genus Aptostichus that now contains 40 species, two of which are already famous – Aptostichus stephencolberti and Aptostichus angelinajolieae. The genus now includes other such notable species as Aptostichus barackobamai, named for Barack Obama, the 44th President of the United States, and reputed fan of Spiderman comics; Aptostichus edwardabbeyi, ...

CAMBRIDGE, Mass. -- In most cities, traffic growth has outpaced road capacity, leading to increased congestion, particularly during the morning and evening commutes. In 2007, congestion on U.S. roads was responsible for 4.2 billion hours of additional travel time, as well as 2.8 billion gallons of fuel consumption and an accompanying increase in air pollution. One way to prevent traffic tie-ups is to have fewer cars on the road by encouraging alternatives such as public transportation, carpooling, flex time and working from home. But a new study — by researchers at MIT, ...