The ALS Association

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Carrie Munk
The ALS Association
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Loss of ALS-Related Protein Causes Disease in Animal Model, Suggesting Therapy Target

Washington, D.C. (March 12, 2014) — In work supported by The ALS Association, researchers have shown that loss of an ALS-related protein causes degeneration of motor neurons, the cells affected in the disease. The study was published in the journal Proceedings of the National Academy of Sciences USA.

ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig’s Disease, is a progressive neurodegenerative disease that affects neurons (nerve cells) in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis. There is no cure and no life-prolonging treatments for the disease. 

Aggregates of TDP-43 protein are found in dying motor neurons in almost all cases of ALS. How those aggregates contribute to the disease process is unknown. One possibility is that the accumulation of TDP-43 protein in the aggregates reduces the amount of functional protein, and that reduction contributes to the dysfunction and eventual death of motor neurons.

To test that possibility, researchers led by Association-supported scientist Zuoshang Xu, M.D., Ph.D., of the University of Massachusetts Medical School in Worcester, partially silenced the TDP-43 gene in the central nervous system in mice, primarily in support cells called astrocytes. Affected mice developed a progressive neurodegenerative disease that ultimately led to paralysis and death. Loss of TDP-43 led to changes in the levels of multiple other proteins, an effect which was also observed in part in the spinal cords of humans with ALS.

“These important results tell us that loss of TDP-43 may contribute to the disease process and amplify previous findings on the importance of astrocytes in the disease process,” said Lucie Bruijn, Ph.D., MBA, Chief Scientist for The Association. “If further experiments confirm the role of loss of TDP-43, therapies that prevent TDP-43 aggregation, or replace its lost function, could be a valuable treatment approach.”

About The ALS Association
The ALS Association is the only national non-profit organization fighting Lou Gehrig’s Disease on every front.  By leading the way in global research, providing assistance for people with ALS through a nationwide network of chapters, coordinating multidisciplinary care through certified clinical care centers, and fostering government partnerships, The Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure.  For more information about The ALS Association, visit our website at

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