(Press-News.org) Contact information: Robin Lally
rlally@umc.rutgers.edu
732-932-7084 x652
Rutgers University
Rare childhood disease may hold clues to treating Alzheimer's and Parkinson's
Rutgers scientists investigate excess protein production in brain cells
Scientists at Rutgers University studying the cause of a rare childhood disease that leaves children unable to walk by adolescence say new findings may provide clues to understanding more common neurodegenerative diseases like Alzheimer's and Parkinson's and developing better tools to treat them.
In today's online edition of Nature Neuroscience, professors Karl Herrup, Ronald Hart and Jiali Li in the Department of Cell Biology and Neuroscience, and Alexander Kusnecov, associate professor in behavioral and systems neuroscience in the Department of Psychology, provide new information about A-T disease, a rare genetic childhood disorder that occurs in an estimated 1 in 40,000 births.
Children born with A-T disease have mutations in both of their copies of the ATM gene and cannot make normal ATM protein. This leads to problems in movement, coordination, equilibrium and muscle control as well as a number of other deficiencies outside the nervous system.
Using mouse and human brain tissue studies, Rutgers researchers found that without ATM, the levels of a regulatory protein known as EZH2 go up. Looking through the characteristics of A-T disease in cells in tissue culture and in brain samples from both humans and mice with ATM mutation, they found that the increase in EZH2 was a major contributing factor to the neuromuscular problems caused by A-T.
"We hope that this work will lead to new therapies to prevent symptoms in those with A-T disease," says Hart. "But on a larger level, this research provides a strong clue toward understanding more common neurodegenerative disorders that may use similar pathways. "It is a theme that has not yet been examined."
While the EZH2 protein has been shown to help determine whether genes get turned on or off, altering the body's ability to perform biological functions, necessary for maintaining good health, the Rutgers study is the first time this protein -- which can cause adverse health effects if there is too much of it -- has been looked at in the mature nerve cells of the brain.
By reducing the excess EZH2 protein that accumulated in mice genetically engineered with A-T disease, and creating a better protein balance within the nerve cells, Rutgers scientists found that mice exhibited improved muscle control, movement and coordination.
In the study, mutant mice that had A-T disease and increased levels of EZH2 were "cured" when this excess EZH2 protein was reduced. The treated mice were able to stay on a rotating rod without falling off almost as long as the mice that did not have A-T disease. By contrast, untreated A-T animals lost their balance and fell off the device almost immediately. The mice were also studied in an open area setting. While the treated A-T mice and normal mice explored a wide area of the open field, the A-T mice, with their excess EZH2 protein, were not as adventurous and stayed behind.
Rutgers scientists say the implications of these findings now need to be validated in a clinical setting. They have begun working with the A-T Clinical Center at Johns Hopkins University, collecting blood samples from children with the disease as well as their parents who carry the genes in order to reprogram them into stem cells. This will allow scientists to create human neurons like those in A-T patients and study the mechanisms that lead from ATM mutations to nerve cell disease in more detail.
The hope is that this new information can be used to develop therapeutic drugs that may result in better neuromuscular control and coordination for those with A-T disease. In addition, the scientists will work to determine whether the EZH2 protein plays a role in other more common neurodegenerative diseases, like Parkinson's and Alzheimer's and could offer a target for developing drugs to treat those brain disorders.
"What is interesting about human health and this research in particular is that it illustrates how a disease that is thought of as 100 percent genetic, actually has a component that is sensitive to the environment," says Herrup, lead author of the study.
###
Rare childhood disease may hold clues to treating Alzheimer's and Parkinson's
Rutgers scientists investigate excess protein production in brain cells
2013-10-28
ELSE PRESS RELEASES FROM THIS DATE:
Scientists eye longer-term forecasts of US heat waves
2013-10-28
Scientists eye longer-term forecasts of US heat waves
BOULDER -- Scientists have fingerprinted a distinctive atmospheric wave pattern high above the Northern Hemisphere that can foreshadow the emergence ...
Radioactive waste: Where to put it?
2013-10-28
Radioactive waste: Where to put it?
2013 GSA Annual Meeting
Boulder, CO, USA — As the U.S. makes new plans for disposing of spent nuclear fuel and other high-level radioactive waste deep underground, geologists are key to identifying safe burial sites and techniques. ...
Mount Sinai researchers identify mechanisms and potential biomarkers of tumor cell dormancy
2013-10-28
Mount Sinai researchers identify mechanisms and potential biomarkers of tumor cell dormancy
May be able to recreate conditions that keep cancer cells from growing after they have spread
Oncologists have long puzzled over ...
Cell nucleus protein in brown fat cells governs daily control of body temperature
2013-10-28
Cell nucleus protein in brown fat cells governs daily control of body temperature
Biorhythm of brown fat has implications for combating obesity, associated diabetes and heart disease, finds an interdisciplinary team from Penn Medicine
PHILADELPHIA ...
International group finds 11 new Alzheimer's genes to target for drug discovery
2013-10-28
International group finds 11 new Alzheimer's genes to target for drug discovery
Global collaboration including Penn Medicine experts yields fresh look at role of immune system in Alzheimer's
PHILADELPHIA - The largest international Alzheimer's ...
Brief exposure to performance-enhancing drugs may be permanently 'remembered' by muscles
2013-10-28
Brief exposure to performance-enhancing drugs may be permanently 'remembered' by muscles
Brief exposure to anabolic steroids may have long lasting, possibly permanent, performance-enhancing effects, shows a study published today [28 October] in The Journal of Physiology.
Previously, ...
Smart neurons: Single neuronal dendrites can perform computations
2013-10-28
Smart neurons: Single neuronal dendrites can perform computations
When you look at the hands of a clock or the streets on a map, your brain is effortlessly performing computations that tell you about the orientation of these objects. New research by UCL scientists ...
New material for quantum computing discovered out of the blue
2013-10-28
New material for quantum computing discovered out of the blue
A common blue pigment used in the £5 note could have an important role to play in the development of a quantum computer, according to a paper published today in the journal Nature.
The pigment, ...
11 new genetic susceptibility factors for AD discovered through the largest study
2013-10-28
11 new genetic susceptibility factors for AD discovered through the largest study
Findings a major breakthrough in the understanding of Alzheimer's disease
(Boston)-- The largest international study ever conducted on Alzheimer's disease (AD), the I-GAP ...
NIH-supported study identifies 11 new Alzheimer's disease risk genes
2013-10-28
NIH-supported study identifies 11 new Alzheimer's disease risk genes
International groups join forces to find elusive gene variants in largest-ever sample set
An international group of researchers has identified 11 new genes that offer important new insights ...
LAST 30 PRESS RELEASES:
Exercise as an anti-ageing intervention to avoid detrimental impact of mental fatigue
UMass Amherst Nursing Professor Emerita honored as ‘Living Legend’
New guidelines aim to improve cystic fibrosis screening
Picky eaters by day, buffet by night: Butterfly, moth diets sync to plant aromas
Pennington Biomedical’s Dr. Leanne Redman honored with the E. V. McCollum Award from the American Society for Nutrition
CCNY physicists uncover electronic interactions mediated via spin waves
Researchers’ 3D-printing formula may transform future of foam
Nurture more important than nature for robotic hand
Drug-delivering aptamers target leukemia stem cells for one-two knockout punch
New study finds that over 95% of sponsored influencer posts on Twitter were not disclosed
New sea grant report helps great lakes fish farmers navigate aquaculture regulations
Strain “trick” improves perovskite solar cells’ efficiency
How GPS helps older drivers stay on the roads
Estrogen and progesterone stimulate the body to make opioids
Dancing with the cells – how acoustically levitating a diamond led to a breakthrough in biotech automation
Machine learning helps construct an evolutionary timeline of bacteria
Cellular regulator of mRNA vaccine revealed... offering new therapeutic options
Animal behavioral diversity at risk in the face of declining biodiversity
Finding their way: GPS ignites independence in older adult drivers
Antibiotic resistance among key bacterial species plateaus over time
‘Some insects are declining but what’s happening to the other 99%?’
Powerful new software platform could reshape biomedical research by making data analysis more accessible
Revealing capillaries and cells in living organs with ultrasound
American College of Physicians awards $260,000 in grants to address equity challenges in obesity care
Researchers from MARE ULisboa discover that the European catfish, an invasive species in Portugal, has a prolonged breeding season, enhancing its invasive potential
Rakesh K. Jain, PhD, FAACR, honored with the 2025 AACR Award for Lifetime Achievement in Cancer Research
Solar cells made of moon dust could power future space exploration
Deporting immigrants may further shrink the health care workforce
Border region emergency medical services in migrant emergency care
Resident physician intentions regarding unionization
[Press-News.org] Rare childhood disease may hold clues to treating Alzheimer's and Parkinson'sRutgers scientists investigate excess protein production in brain cells