(Press-News.org) 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 disease, providing new insight into potential therapeutic targets for this rare condition.
###
TITLE: A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
AUTHOR CONTACT:
Koji Yasutomo
University of Tokushima Graduate School, Tokushima, Japan.
Phone: 81.88.633.7048; Fax: 81.88.633.7114; E-mail: yasutomo@basic.med.tokushima-u.ac.jp.
View this article at: http://www.jci.org/articles/view/58414?key=e68484f2b2319cbd8a87
Joining the dots: mutation-mechanism-disease
2011-09-02
ELSE PRESS RELEASES FROM THIS DATE:
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 ...