Rare childhood disease holds clues for others.
Position | Neurodegenerative Diseases |
A rare childhood disease that leaves children unable to walk by adolescence may provide clues to understanding more common neurodegenerative diseases like Alzheimer's and Parkinson's, as well as developing better tools to treat them, maintains a study out of Rutgers University, New Brunswick, N.J.
Children born with A-T disease--a rare genetic childhood disorder that occurs in an estimated one in 40,000 births--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 of the nervous system.
Researchers have 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, 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 Ronald Hart, a professor in the Department of Cell Biology and Neuroscience. "On a larger level, this research provides a strong clue toward understanding more common...
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