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Joining the dots: mutation-mechanism-disease

2011-09-02
Individuals with an autoinflammatory syndrome experience episodes of prolonged fever and inflammation in the absence of infection. There are several different autoinflammatory syndromes identified by distinct symptoms and underlying genetic mutations. A team of researchers, led by Koji Yasutomo, at the University of Tokushima Graduate School, Japan, has now determined that a mutation of the PSMB8 gene causes Japanese autoinflammatory syndrome with lipodystrophy (JASL), a recently identified condition. The team performed a detailed analysis of how the PSMB8 mutation causes ...

Activating your ABCs might help prevent AD (Alzheimer disease)

2011-09-02
Alzheimer disease (AD) is the most common cause of dementia among older people. One of the main features of AD is the presence in the brain of abnormal clumps of the protein fragment beta-amyloid, which are known as amyloid plaques. A team of researchers, led by Jens Pahnke, at the University of Rostock, Germany, has now identified a way to reduce the amount of beta-amyloid in the brains of mice with a disease that models AD, providing hope that a similar approach might be possible in patients. One reason that beta-amyloid accumulates in the brain of an individual with ...

JCI online early table of contents: Sept. 1, 2011

2011-09-02
EDITOR'S PICK: Activating your ABCs might help prevent AD (Alzheimer disease) Alzheimer disease (AD) is the most common cause of dementia among older people. One of the main features of AD is the presence in the brain of abnormal clumps of the protein fragment beta-amyloid, which are known as amyloid plaques. A team of researchers, led by Jens Pahnke, at the University of Rostock, Germany, has now identified a way to reduce the amount of beta-amyloid in the brains of mice with a disease that models AD, providing hope that a similar approach might be possible in patients. One ...

Orchestrator of waste removal rescues cells that can't manage their trash

2011-09-02
Just as we must take out the trash to keep our homes clean and safe, it is essential that our cells have mechanisms for dealing with wastes and worn-out proteins. When these processes are not working properly, unwanted debris builds up in the cell and creates a toxic environment. Now, a new study published by Cell Press on September 1st in the journal Developmental Cell describes a master regulator of the intracellular recycling and waste removal process and suggests an alternative strategy for treatment of metabolic disorders associated with the abnormal accumulation of ...

Infants trained to concentrate show added benefits

2011-09-02
Although parents may have a hard time believing it, even infants can be trained to improve their concentration skills. What's more, training babies in this way leads to improvements on other, unrelated tasks. The findings reported online on September 1 in Current Biology, a Cell Press publication, are in contrast to reports in adults showing that training at one task generally doesn't translate into improved performance on other, substantially different tasks. They also may have important implications for improving success in school, particularly for those children at ...

An 'unconventional' path to correcting cystic fibrosis

2011-09-02
Researchers have identified an unconventional path that may correct the defect underlying cystic fibrosis, according to a report in the September 2nd issue of the journal Cell, a Cell Press publication. This new treatment dramatically extends the lives of mice carrying the disease-associated mutation. Cystic Fibrosis is caused by a mutation in a gene responsible for the transport of ions across cell membranes. This gene encodes a protein channel, called the cystic fibrosis transmembrane conductance regulator or CFTR, that is normally found on the surfaces of cells lining ...

Yale scientists find stem cells that tell hair it's time to grow

2011-09-02
Yale researchers have discovered the source of signals that trigger hair growth, an insight that may lead to new treatments for baldness. The researchers identified stem cells within the skin's fatty layer and showed that molecular signals from these cells were necessary to spur hair growth in mice, according to research published in the Sept. 2 issue of the journal Cell. "If we can get these fat cells in the skin to talk to the dormant stem cells at the base of hair follicles, we might be able to get hair to grow again," said Valerie Horsley, assistant professor of ...

Manipulating plants' circadian clock may make all-season crops possible

2011-09-02
Yale University researchers have identified a key genetic gear that keeps the circadian clock of plants ticking, a finding that could have broad implications for global agriculture. The research appears in the Sept. 2 issue of the journal Molecular Cell. "Farmers are limited by the seasons, but by understanding the circadian rhythm of plants, which controls basic functions such as photosynthesis and flowering, we might be able to engineer plants that can grow in different seasons and places than is currently possible," said Xing Wang Deng, the Daniel C. Eaton Professor ...

Signs of aging may be linked to undetected blocked brain blood vessels

2011-09-02
Many common signs of aging, such as shaking hands, stooped posture and walking slower, may be due to tiny blocked vessels in the brain that can't be detected by current technology. In a study reported in Stroke: Journal of the American Heart Association, researchers from Rush University Medical Center, Chicago, examined brain autopsies of older people and found: Microscopic lesions or infarcts — too small to be detected using brain imaging — were in 30 percent of the brains of people who had no diagnosed brain disease or stroke. Those who had the most trouble walking ...

Cryptococcus infections misdiagnosed in many AIDS patients

2011-09-02
DURHAM, NC -- Most AIDS patients, when diagnosed with a fungal infection known simply as cryptococcosis, are assumed to have an infection with Cryptococcus neoformans, but a recent study from Duke University Medical Center suggests that a sibling species, Cryptococcus gattii, is a more common cause than was previously known. The difference between these strains could make a difference in treatment, clinical course, and outcome, said Joseph Heitman, M.D., Ph.D., senior author of the study and chair of the Duke Department of Molecular Genetics and Microbiology. The ...

Sparing or sharing? Protecting wild species may require growing more food on less land

2011-09-02
In parts of the world still rich in biodiversity, separating natural habitats from high-yielding farmland could be a more effective way to conserve wild species than trying to grow crops and conserve nature on the same land, according to a new study published today (2 September 2011) in the journal Science. The study, by researchers at the University of Cambridge and the Royal Society for the Protection of Birds, collected information on more than 600 species in southwest Ghana and northern India, two parts of the world where demand for agricultural land is putting ever ...

Glowing, blinking bacteria reveal how cells synchronize biological clocks

2011-09-02
Biologists have long known that organisms from bacteria to humans use the 24 hour cycle of light and darkness to set their biological clocks. But exactly how these clocks are synchronized at the molecular level to perform the interactions within a population of cells that depend on the precise timing of circadian rhythms is less well understood. To better understand that process, biologists and bioengineers at UC San Diego created a model biological system consisting of glowing, blinking E. coli bacteria. This simple circadian system, the researchers report in the September ...

From a flat mirror, designer light

From a flat mirror, designer light
2011-09-02
Cambridge, Mass. - September 1, 2011 - Exploiting a novel technique called phase discontinuity, researchers at the Harvard School of Engineering and Applied Sciences (SEAS) have induced light rays to behave in a way that defies the centuries-old laws of reflection and refraction. The discovery, published this week in Science, has led to a reformulation of the mathematical laws that predict the path of a ray of light bouncing off a surface or traveling from one medium into another—for example, from air into glass. "Using designer surfaces, we've created the effects of ...

Two genes that cause familial ALS shown to work together

2011-09-02
NEW YORK, NY, (September 1, 2011) – Although several genes have been linked to amyotrophic lateral sclerosis (ALS), it is still unknown how they cause this progressive neurodegenerative disease. In a new study, Columbia University Medical Center (CUMC) researchers have demonstrated that two ALS-associated genes work in tandem to support the long-term survival of motor neurons. The findings were published in the September 1 online edition of the Journal of Clinical Investigation. "Any therapy based on this discovery is probably a long way off. Nonetheless, it's an important ...

Cornell physicists capture microscopic origins of thinning and thickening fluids

2011-09-02
ITHACA, N.Y. – In things thick and thin: Cornell physicists explain how fluids – such as paint or paste - behave by observing how micron-sized suspended particles dance in real time. Using high-speed microscopy, the scientists unveil how these particles are responding to fluid flows from shear – a specific way of stirring. (Science, Sept. 2). Observations by Xiang Cheng, Cornell post-doctoral researcher in physics and Itai Cohen, Cornell associate professor of physics, are the first to link direct imaging of the particle motions with changes in liquid viscosity. Combining ...

UT MD Anderson scientists discover secret life of chromatin

2011-09-02
HOUSTON -- Chromatin - the intertwined histone proteins and DNA that make up chromosomes – constantly receives messages that pour in from a cell’s intricate signaling networks: Turn that gene on. Stifle that one. But chromatin also talks back, scientists at The University of Texas MD Anderson Cancer Center report today in the journal Cell, issuing orders affecting a protein that has nothing to do with chromatin's central role in gene transcription - the first step in protein formation. "Our findings indicate chromatin might have another life as a direct signaling molecule, ...

ATS publishes clinical practice guidelines on interpretation of FENO levels

2011-09-02
The American Thoracic Society has issued the first-ever guidelines on the use of fractional exhaled nitric oxide (FENO) that address when to use FENO and how to interpret FENO levels in different clinical settings. The guidelines, which appear in the September 1 American Journal of Respiratory and Critical Care Medicine, are graded based on the available evidence in the literature. "There are existing guidelines to measure FENO but none to interpret the results," noted Raed A. Dweik, MD, chair of the guideline writing committee and professor of medicine and director ...

New map shows where tastes are coded in the brain

2011-09-02
Each taste, from sweet to salty, is sensed by a unique set of neurons in the brains of mice, new research reveals. The findings demonstrate that neurons that respond to specific tastes are arranged discretely in what the scientists call a "gustotopic map." This is the first map that shows how taste is represented in the mammalian brain. There's no mistaking the sweetness of a ripe peach for the saltiness of a potato chip – in part due to highly specialized, selectively-tuned cells in the tongue that detect each unique taste. Now, Howard Hughes Medical Institute and NIH ...

Ben-Gurion U. researchers identify gene that leads to myopia (nearsightedness)

2011-09-02
BEER-SHEVA, ISRAEL, September 1, 2011— A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness. In an article appearing online in the American Journal of Human Genetics today, Birk and his team reveal that a mutation in LEPREL1 has been shown to cause myopia. "We are finally beginning to understand at a molecular level why nearsightedness occurs," Prof. Birk says. The discovery was a group effort at BGU's Morris Kahn Laboratory of Human Genetics at the National Institute ...

2 brain halves, 1 perception

2011-09-02
Our brain is divided into two hemispheres, which are linked through only a few connections. However, we do not seem to have a problem to create a coherent image of our environment – our perception is not "split" in two halves. For the seamless unity of our subjective experience, information from both hemispheres needs to be efficiently integrated. The corpus callosum, the largest fibre bundle connecting the left and right side of our brain, plays a major role in this process. Researchers from the Max Planck Institute for Brain Research in Frankfurt investigated whether ...

Faster progress through puberty linked to behavior problems

2011-09-02
Children who go through puberty at a faster rate are more likely to act out and to suffer from anxiety and depression, according to a study by researchers at Penn State, Duke University and the University of California, Davis. The results suggest that primary care providers, teachers and parents should look not only at the timing of puberty in relation to kids' behavior problems, but also at the tempo of puberty -- how fast or slow kids go through puberty. "Past work has examined the timing of puberty and shown the negative consequences of entering puberty at an early ...

Sex hormones impact career choices

2011-09-02
Teacher, pilot, nurse or engineer? Sex hormones strongly influence people's interests, which affect the kinds of occupations they choose, according to psychologists. "Our results provide strong support for hormonal influences on interest in occupations characterized by working with things versus people," said Adriene M. Beltz, graduate student in psychology, working with Sheri A. Berenbaum, professor of psychology and pediatrics, Penn State. Berenbaum and her team looked at people's interest in occupations that exhibit sex differences in the general population and ...

First long-term study of WTC workers shows widespread health problems 10 years after Sept. 11

2011-09-02
In the first long-term study of the health impacts of the World Trade Center (WTC) collapse on September 11, 2001, researchers at The Mount Sinai Medical Center in New York have found substantial and persistent mental and physical health problems among 9/11 first responders and recovery workers. The data are published this week in a special 9/11 issue of the medical journal Lancet. The Mount Sinai World Trade Center Clinical Center of Excellence and Data Center evaluated more than 27,000 police officers, construction workers, firefighters, and municipal workers over the ...

Caltech team says sporulation may have given rise to the bacterial outer membrane

Caltech team says sporulation may have given rise to the bacterial outer membrane
2011-09-02
VIDEO: This video uses animation to piece together cryotomograms of Acetonema longum cells at different stages of the sporulation process. Cryotomograms appear in black and white. Inner membranes are shown in... Click here for more information. PASADENA, Calif.—Bacteria can generally be divided into two classes: those with just one membrane and those with two. Now researchers at the California Institute of Technology (Caltech) have used a powerful imaging technique to find ...

Digital quantum simulator realized

Digital quantum simulator realized
2011-09-02
Almost two years ago Rainer Blatt's and Christan Roos' research groups from the University of Innsbruck recreated the properties of a particle moving close to speed of light in a quantum system. They encoded the state of the particle into a highly cooled calcium atom and used lasers to manipulate it according to equations proposed by the famous quantum physicist Paul Dirac. Thereby, the scientists were able to simulate so called Zitterbewegung (quivering motion) of relativistic particles, which had never been observed directly in nature before. In the current work, the ...
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