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Rare childhood disease may hold clues to treating Alzheimer's and Parkinson's
Date:10/27/2013

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
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Contact: Robin Lally
rlally@umc.rutgers.edu
732-932-7084 x652
Rutgers University
Source:Eurekalert

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