MAYWOOD, Il. – Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders. Nine rare, disease-causing mutations of the gene, FBXL4, were found in nine affected children in seven families, including three siblings from the same family. An international team of researchers report the discovery in the American Journal of Human Genetics. The lead author is Xiaowu Gai, PhD, director of the Center for Biomedical Informatics at Loyola University Chicago Stritch School of Medicine. Mitochondrial ...

By lowering the expression of a single gene, researchers at the National Institutes of Health have extended the average lifespan of a group of mice by about 20 percent -- the equivalent of raising the average human lifespan by 16 years, from 79 to 95. The research team targeted a gene called mTOR, which is involved in metabolism and energy balance, and may be connected with the increased lifespan associated with caloric restriction. A detailed study of these mice revealed that gene-influenced lifespan extension did not affect every tissue and organ the same way. For example, ...

A team of neuroscientists has found a key to the reduction of forgetting. Their findings, which appear in the journal Neuron, show that the better the coordination between two regions of the brain, the less likely we are to forget newly obtained information. The study was conducted at New York University by Lila Davachi, an associate professor in NYU's Department of Psychology and Center for Neural Science, and Kaia Vilberg, now a postdoctoral researcher at the University of Texas' Center for Vital Longevity and School of Behavioral and Brain Sciences in Dallas. "When ...

New research in mice reveals why the body is so slow to recover from jet-lag and identifies a target for the development of drugs that could help us to adjust faster to changes in time zone. With funding from the Wellcome Trust and F. Hoffmann La Roche, researchers at the University of Oxford and F. Hoffmann La Roche have identified a mechanism that limits the ability of the body clock to adjust to changes in patterns of light and dark. And the team show that if you block the activity of this gene in mice, they recover faster from disturbances in their daily light/dark ...

MANHASSET, NY – Investigators at The Feinstein Institute for Medical Research have discovered a new way to measure the progression of Huntington's disease, using positron emission tomography (PET) to scan the brains of carriers of the gene. The findings are published in the September issue of The Journal of Clinical Investigation. Huntington's disease causes the progressive breakdown of nerve cells in the brain, which leads to impairments in movement, thinking and emotions. Most people with Huntington's disease develop signs and symptoms in their 40s or 50s, but the onset ...

When a cancer cell sloughs off the edge of a tumor in the breast, it faces a tough road to survive. The cell must not only remain physically intact as it rushes through blood vessels, but it also must find a new organ to lodge itself in, take in enough nutrients and oxygen to stay alive, and begin dividing, all while escaping notice by the body's immune system. A team of Howard Hughes Medical Institute (HHMI) scientists has discovered that some loose breast cancer cells, have a leg up on survival—the genes they express make them more likely to prosper in bone tissue. ...

SAN FRANCISCO, CA—August 29, 2013—There is no easy way to study diseases of the brain. Extracting brain cells, or neurons, from a living patient is difficult and risky, while examining a patient's brain post-mortem usually only reveals the disease's final stages. And animal models, while incredibly informative, have frequently fallen short during the crucial drug-development stage of research. But scientists at the Gladstone Institutes and the University of California, San Francisco (UCSF) have taken a potentially more powerful approach: an advanced stem-cell technique ...

CAMBRIDGE, Mass. (August 29, 2013) – Whitehead Institute researchers have used the gene regulation system CRISPR/Cas to engineer mouse genomes containing reporter and conditional alleles in one step. Animals containing such sophisticated engineered alleles can now be made in a matter of weeks rather than years and could be used to model diseases and study gene function. "We've used CRISPR/Cas to mutate genes before, but the nature of the targeted mutations has been unpredictable," says Whitehead Founding Member Rudolf Jaenisch. "Now we can make specific deletions defined ...

OAKLAND, Calif., August 29, 2013 — Overweight women with low levels of the hormone adiponectin prior to pregnancy are nearly seven times more likely to develop gestational diabetes, according to a Kaiser Permanente study published today in the journal Diabetes Care. Adiponectin protects against insulin resistance, inflammation and heart disease. Using Kaiser Permanente HealthConnect®, an electronic health records system, the researchers retrospectively identified about 4,000 women who gave voluntary blood samples between 1985 and 1996 during routine care and subsequently ...

A genetic phenomenon that allows for the selection of multiple genetic mutations that all lead to a similar outcome -- for instance the ability to digest milk -- has been characterised for the first time in humans. The phenomenon, known as a 'soft selective sweep', was described in the population of Ethiopia and reveals that individuals from the Eastern African population have adapted to be able to digest milk, but via different mutations in their genetic material. A team of geneticists from UCL, University of Addis Ababa and Roskilde University have shown that five ...

Los Angeles -- While in the past century there have been several documented examples of young, healthy athletes who have died suddenly of heart disease during competitive sporting events, a new study finds that this problem also extends to chimpanzees. According to an article published today in the SAGE journal Veterinary Pathology, Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a human heart disease that causes sudden cardiac death in teenagers and young adults (particularly healthy athletes), has now been identified in chimpanzees. "It is the first description ...

ANN ARBOR—Imagine that garbage haulers don't exist. Slowly, the trash accumulates in our offices, our homes, it clogs the streets and damages our cars, causes illness and renders normal life impossible. Garbage in the brain, in the form of dead cells, must also be removed before it accumulates, because it can cause both rare and common neurological diseases, such as Parkinson's. Now, University of Michigan researchers are a leap closer to decoding the critical process of how the brain clears dead cells, said Haoxing Xu, associate professor in the U-M Department of Molecular, ...

Professor Hannes Lohi's research group at the University of Helsinki and Folkhälsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds. PRA is one of the most common causes of blindness in dogs and in human. CNGB1 mutations have been previously associated with the corresponding human disease, human retinitis pigmentosa. This study highlights the shared genetic etiology of many canine and human genetic disorders, and provides new tools to investigate PRA mechanisms while the ...

A significant portion of the petroleum consumed by the transport sector must be replaced in the long term by renewable energy. Therefore, it is of the utmost economic and ecological importance to optimise the production of biofuels from renewable raw materials. Researchers from VIB who are associated with KU Leuven have developed yeast strains that produce bio-ethanol from waste with an unprecedented efficiency. As a result, they are well placed to become important players on a global scale in this burgeoning industry. Johan Thevelein (VIB/KU Leuven): "Our new yeast strains ...

How do institutional investors react to customer satisfaction with companies on the stock market? A research group run by Jaakko Aspara, who is a professor in the Department of Marketing at Aalto University School of Business in Finland, conducted a study showing that improved customer satisfaction with a company causes institutional investors to increase their ownership in that firm and has a positive impact on share value. The study was published in the highly regarded Journal of the Academy of Marketing Science. It shows that transient institutional investors, such ...

Biologists at LMU have demonstrated that people can acquire the capacity for echolocation, although it does take time and work. As blind people can testify, we humans can hear more than one might think. The blind learn to navigate using as guides the echoes of sounds they themselves make. This enables them to sense the locations of walls and corners, for instance: by tapping the ground with a stick or making clicking sounds with the tongue, and analyzing the echoes reflected from nearby surfaces, a blind person can map the relative positions of objects in the vicinity. ...

Researchers at Lund University have unexpectedly discovered that an old cancer drug can be used to prevent rejection of transplanted tissue. The researchers now have high hopes that their discovery could lead to new treatments for both transplant patients and patients with autoimmune diseases. The researchers behind the study, which has been published in the scientific journal PLOS ONE, work at the Rausing Laboratory, Lund University, where they have conducted research on brain tumours over many years. "Our group were studying the effects of the old tumour drug Zebularine, ...

Fossil fuel emissions are impacting corals through high temperatures which can cause their deaths and ocean acidification which makes it difficult for them to produce their skeletons. In a study published today in Global Change Biology, Dr Elena Couce, Professor Andy Ridgwell and Dr Erica Hendy used computer models to predict future shifts in the global distribution of coral reef ecosystems under these two stressors. The researchers found that warming impacts were dominant, with a significant decline in suitability for corals near the equator. Dr Couce said: "Just ...

The combined computing power of 200,000 private PCs helps astronomers take an inventory of the Milky Way. The Einstein@Home project connects home and office PCs of volunteers from around the world to a global supercomputer. Using this computer cloud, an international team lead by scientists from the Max Planck Institutes for Gravitational Physics and for Radio Astronomy analysed archival data from the CSIRO Parkes radio telescope in Australia. Using new search methods, the global computer network discovered 24 pulsars – extraordinary stellar remnants with extreme physical ...

Shenzhen, China -- The MetaHIT consortium, comprised of Institute National de la Recherche Agronomique (INRA), University of Copenhagen, BGI, and other institutes, has investigated the gut microbial composition in a cohort of 123 non-obese and 169 obese Danish individuals. This study showed for the first time that 2 groups of individuals can be distinguished in the population by the richness of gut microbiota. The latest results were published online in Nature today. Obesity, known as "the modem civilized disease", is a leading preventable cause of death worldwide that ...

The new study by Prof. Sarah Kang from Ulsan National Institute of Science and Technology (UNIST), showed that the ozone depletion over the South Pole has affected the extreme daily precipitation in the austral summer, for December, January, and February (DJF). This work was published in the journal Geophysical Research Letter. (Title: "Modeling evidence that ozone depletion has impacted extreme precipitation in the austral summer", Vol. 40, 1-6, doi:10.1002/grl.50796, 2013) The ozone hole over the Antarctic has affected atmospheric circulation in the Southern Hemisphere ...

Bethesda, MD—No one likes clingy people, but "clingy" blood platelets may offer hope for millions of people with rheumatoid arthritis. According to new research findings published in The Journal of Leukocyte Biology, a sub population of immune cells (lymphocytes) known to play a significant role in rheumatoid arthritis has platelets attached to their surface. Those attached platelets reduced the ability of the immune cells to cause disease by reducing their activity levels and ability to spread. This opens the door to new investigations into treatments that ultimately bind ...

CHAPEL HILL, N.C. – Adults age 45 and older who engaged in moderate physical activity up to two and a half hours a week did not increase their risk of developing knee osteoarthritis over a 6-year follow-up period, a new study finds. Study participants who engaged in the highest levels of physical activity – up to 5 hours a week – did have a slightly higher risk of knee osteoarthritis, but the difference was not statistically significant. Those findings taken together are good news, said Joanne Jordan, MD, MPH, senior study author and director of the Thurston Arthritis ...

COLUMBUS, Ohio -- While some researchers have claimed that war between nations is in decline, a new analysis suggests we shouldn't be too quick to celebrate a more peaceful world. The study finds that there is no clear trend indicating that nations are less eager to wage war, said Bear Braumoeller, author of the study and associate professor of political science at The Ohio State University. Conflict does appear to be less common than it had been in the past, he said. But that's due more to an inability to fight than to an unwillingness to do so. "As empires fragment, ...

Young people who identify as lesbian, gay or bisexual are twice as likely to have smoked than their heterosexual peers, according to new research published in BMJ Open. Lesbian and gay young people were also more likely to drink alcohol frequently and more hazardously. The interdisciplinary research team comprised researchers from five UK Universities (UCL, University of Cambridge, London Metropolitan University, De Montfort University Leicester and Brunel University), a doctor working in General Practice and a consultant from Public Health England. The researchers ...