(Press-News.org) (Boston)-- Researchers from Boston University School of Medicine (BUSM) report variants in a new gene, PLXNA4, which may increase the risk of developing Alzheimer's disease (AD). The discovery of this novel genetic association may lead to new drug treatment options that target PLXNA4 specifically. These findings appear in the Annals of Neurology.
AD is the most frequent age-related dementia affecting 5.4 million Americans including 13 percent of people age 65 and older, and more than 40 percent of people age 85 and older. Genetic factors account for much of the risk for developing AD with heritability estimates between 60 percent and 80 percent. However much of the genetic basis for the disease is unexplained. Less than 50 percent of the genetic contribution to AD is supported by known common genetic variations.
Using data from the Framingham Heart Study, the researchers obtained strong evidence of an association with several single nucleotide polymorphism in PLXNA4, a gene which had not been previously linked to AD. They then confirmed this finding in a larger dataset from the Alzheimer's Disease Genetics Consortium and other datasets. Next, they performed a series of experiments in models that pinpointed the mechanism by which this gene affects AD risk. "Importantly, this is one of few single studies which go from gene finding to mechanism," explained corresponding author Lindsay Farrer, PhD, Chief of Biomedical Genetics and professor of medicine, neurology, ophthalmology, epidemiology and biostatistics at BUSM.
According to the researchers a form of the protein encoded by this gene promotes formation of neurofibrillary tangles consisting of decomposed tau protein, one of the two pathological hallmarks of the disease. "We showed that PLXNA4 affects the processing of tau as it relates to neurofibrillary tangles, the primary marker of AD. Most drugs that have been developed or that are in development for treating AD are intended to reduce the toxic form of beta-amyloid, a sticky substance that accumulates in the brain of persons with AD, and none have been very effective. Only a few drugs have targeted the tau pathway," added Farrer.
INFORMATION:This study was supported by grants from the National Institute on Aging (R01-AG025259, P30-AG13846, R01-AG0001, U24-AG021886, U24-AG26395, R01-AG041797 and P50-AG005138), the Alzheimer Association, the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (#A110742), and the Evans Center for Interdisciplinary Biomedical Research (ECIBR) ARC on "Protein Trafficking and Neurodegenerative Disease" at Boston University.
Researchers identify potential biomarker for AD
2014-07-28
ELSE PRESS RELEASES FROM THIS DATE:
Researcher using next-generation sequencing to rapidly identify pathogens
2014-07-28
MANHATTAN, Kansas — He calls himself the bug hunter, but the target of his work consists of viruses that can only be found and identified with special methods and instruments. Benjamin Hause, an assistant research professor at the Kansas State Veterinary Diagnostic Laboratory at Kansas State University, recently published an article about one of his discoveries, porcine enterovirus G, which is an important find in the United States.
"We had isolated a virus in cells, but didn't know what it was," Hause said. "We used next-generation sequencing to identify it, and it turned ...
Preschoolers with special needs benefit from peers' strong language skills
2014-07-28
The guiding philosophy for educating children with disabilities has been to integrate them as much as possible into a normal classroom environment, with the hope that peers' skills will help bring them up to speed. A new study provides empirical evidence that peers really can have an impact on a child's language abilities, for better or worse.
While peers with strong language skills can help boost their classmates' abilities, being surrounded by peers with weak skills may hinder kids' language development.
The findings are published in Psychological Science, a journal ...
Unhealthy habits more than double risk of metabolic syndrome in childhood cancer survivors
2014-07-28
A St. Jude Children's Research Hospital study found that 73 percent of adult survivors of childhood cancer more than doubled their risk of developing metabolic syndrome and related health problems by failing to follow a heart-healthy lifestyle. The results appear in the current issue of the journal Cancer.
Almost 32 percent of the 1,598 adult survivors of childhood cancer in the study had metabolic syndrome, an umbrella term for health risk factors like high blood pressure, abdominal obesity, elevated triglyceride and other abnormalities that often occur together. The ...
Seeing is bead-lieving
2014-07-28
HOUSTON – (July 28, 2014) – Rice University researchers are using magnetic beads and DNA "springs" to create chains of varying flexibility that can be used as microscale models for polymer macromolecules.
The experiment is visual proof that "bead-spring" polymers, introduced as theory in the 1950s, can be made as stiff or as flexible as required and should be of interest to materials scientists who study the basic physics of polymers
The work led by Rice chemical and biomolecular engineer Sibani Lisa Biswal and graduate student Julie Byrom was published this month in ...
Mutations from Venus, mutations from Mars
2014-07-28
Some 15% of adults suffer from fertility problems, many of these due to genetic factors. This is something of a paradox: We might expect such genes, which reduce an individual's ability to reproduce, to disappear from the population. Research at the Weizmann Institute of Science that recently appeared in Nature Communications may now have solved this riddle. Not only can it explain the high rates of male fertility problems, it may open new avenues in understanding the causes of genetic diseases and their treatment.
Various theories explain the survival of harmful mutations: ...
Measuring the smallest magnets
2014-07-28
Imagine trying to measure a tennis ball that bounces wildly, every time to a distance a million times its own size. The bouncing obviously creates enormous "background noise" that interferes with the measurement. But if you attach the ball directly to a measuring device, so they bounce together, you can eliminate the noise problem.
As reported recently in Nature, physicists at the Weizmann Institute of Science used a similar trick to measure the interaction between the smallest possible magnets – two single electrons – after neutralizing magnetic noise that was a million ...
Social network research may boost prairie dog conservation efforts
2014-07-28
Researchers using statistical tools to map social connections in prairie dogs have uncovered relationships that escaped traditional observational techniques, shedding light on prairie dog communities that may help limit the spread of bubonic plague and guide future conservation efforts. The work was done by researchers from North Carolina State University and the National Evolutionary Synthesis Center (NESCent).
"Prairie dogs are increasingly rare and are subject to bubonic plague," says Dr. Jennifer Verdolin, lead author of a paper on the work and an animal behavior ...
Motivation explains disconnect between testing and real-life functioning for seniors
2014-07-28
A psychology researcher at North Carolina State University is proposing a new theory to explain why older adults show declining cognitive ability with age, but don't necessarily show declines in the workplace or daily life. One key appears to be how motivated older adults are to maintain focus on cognitive tasks.
"My research team and I wanted to explain the difference we see in cognitive performance in different settings," says Dr. Tom Hess, a professor of psychology at NC State and author of a paper describing the theory. "For example, laboratory tests almost universally ...
Wearable device for the early detection of common diabetes-related neurological condition
2014-07-28
WASHINGTON, July 28, 2014—A group of researchers in Taiwan has developed a new optical technology that may be able to detect an early complication of diabetes sooner, when it is more easily treated. If the device proves safe and effective in clinical trials, it may pave the way for the early detection and more effective treatment of this complication, called diabetic autonomic neuropathy, which is common among people with both Type 1 and Type 2 diabetes. The condition progressively affects the autonomic nerves controlling vital organs like the heart and gastrointestinal ...
Potential 'universal' blood test for cancer discovered
2014-07-28
Researchers from the University of Bradford, UK, have devised a simple blood test that can be used to diagnose whether people have cancer or not.
The test will enable doctors to rule out cancer in patients presenting with certain symptoms, saving time and preventing costly and unnecessary invasive procedures such as colonoscopies and biopsies being carried out. Alternatively, it could be a useful aid for investigating patients who are suspected of having a cancer that is currently hard to diagnose.
Early results have shown the method gives a high degree of accuracy ...