(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:
Less intensive works best for agricultural soil
Arctic rivers project receives “national champion” designation from frontiers foundation
Computational biology paves the way for new ALS tests
Study offers new hope for babies born with opioid withdrawal syndrome
UT, Volkswagen Group of America celebrate research partnership
New Medicare program could dramatically improve affordability for cancer drugs – if patients enroll
Are ‘zombie’ skin cells harmful or helpful? The answer may be in their shapes
University of Cincinnati Cancer Center presents research at AACR 2025
Head and neck, breast, lung and survivorship studies headline Dana-Farber research at AACR Annual Meeting 2025
AACR: Researchers share promising results from MD Anderson clinical trials
New research explains why our waistlines expand in middle age
Advancements in muon detection: Taishan Antineutrino Observatory's innovative top veto tracker
Chips off the old block
Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia
Cutting the complexity from digital carpentry
Lung immune cell type “quietly” controls inflammation in COVID-19
Fiscal impact of expanded Medicare coverage for GLP-1 receptor agonists to treat obesity
State and sociodemographic trends in US cigarette smoking with future projections
Young adults drive historic decline in smoking
NFCR congratulates Dr. Robert C. Bast, Jr. on receiving the AACR-Daniel D. Von Hoff Award for Outstanding Contributions to Education and Training in Cancer Research
Chimpanzee stem cells offer new insights into early embryonic development
This injected protein-like polymer helps tissues heal after a heart attack
FlexTech inaugural issue launches, pioneering interdisciplinary innovation in flexible technology
In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis, connectivity
Methyl eugenol: potential to inhibit oxidative stress, address related diseases, and its toxicological effects
A vascularized multilayer chip reveals shear stress-induced angiogenesis in diverse fluid conditions
AI helps unravel a cause of Alzheimer's disease and identify a therapeutic candidate
Coalition of Autism Scientists critiques US Department of Health and Human Services Autism Research Initiative
Structure dictates effectiveness, safety in nanomedicine
Mission accomplished for the “T2T” Hong Kong Bauhinia Genome Project
[Press-News.org] Rare childhood disease may hold clues to treating Alzheimer's and Parkinson'sRutgers scientists investigate excess protein production in brain cells