Different Disease Processes Caused by Different ALS Genes

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Oct 21, 2013, 02:35 ET

WASHINGTON, Oct. 21, 2013 /PRNewswire-USNewswire/ -- In work supported by The ALS Association, researchers have shown that critical aspects of the ALS disease process differ among different genetic forms of ALS. The study was published in the journal Experimental Neurology.

ALS (amyotrophic lateral sclerosis), often referred to 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.

In the most common model of the disease, caused by mutations in the superoxide dismutase (SOD1) gene, central nervous system cells called astrocytes contribute to the death of motor neurons, the loss of which is responsible for the symptoms of ALS. In the current study, researchers tested whether astrocytes also contributed to motor neuron death in another model of the disease, based on mutations in the TDP-43 gene. They found that neither an excess of mutant TDP-43 protein, nor the absence of any protein, in astrocytes had any effect on motor neurons, whether grown in a lab dish or in the spinal cords of rodents.

"These important findings tell us that different disease processes are likely at work in different types of ALS," said Lucie Bruijn, Ph.D., Chief Scientist for The Association. "They reinforce that the most effective therapy may emerge from understanding the differences between forms of ALS and tailoring of treatments to these differences."

The research was performed by Amanda Haidet-Phillips, Ph.D., under the leadership of Nicholas Maragakis, M.D., both of the Johns Hopkins School of Medicine in Baltimore, Md. Dr. Haidet-Phillips is the recipient of The Milton Safenowitz Post-Doctoral Fellowship for ALS Research Award, which encourages and facilitates promising young scientists to enter the ALS field. Funding for this two-year research award is made possible by the generosity of the Safenowitz family through the Greater New York Chapter of The ALS Association and is in memory of Mr. Safenowitz, who died of ALS in 1998.

A portion of the Haidet-Phillips fellowship was funded through The E.F. Wallengren Fund for ALS Research.

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 www.alsa.org.

SOURCE The ALS Association