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The ALS Association Researchers Find Genetic Region Influencing Age at Which People Develop Lou Gehrig's Disease


9/10/2012 9:54:41 AM

WASHINGTON, Sept. 7, 2012 /PRNewswire-USNewswire/ -- The ALS Association is pleased to announce that an international consortium of researchers it convened and funded has identified a region on chromosome 1 that strongly influences the age at which an individual develops amyotrophic lateral sclerosis (ALS). For the first time, scientists have found that people with ALS, who have a specific genetic signature within this region on chromosome 1, had an age of onset that is approximately two-and-a-half years earlier than those without it. The study was funded in part by The ALS Association and published today in Neurobiology of Aging.

ALS is a progressive neurodegenerative disease that affects 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. For unknown reasons, veterans are twice as likely to develop ALS as the general population. There is no cure, and only one drug approved by the U.S. Food and Drug Administration (FDA) modestly extends survival.

"The discovery of a region or genetic center on chromosome 1 that influences the age at which a person develops ALS is critically important for understanding the disease process," said Lucie Bruijn, Ph.D., Chief Scientist for The ALS Association. "There are many pathways that lead to ALS, and this new discovery suggests that there may be common factors to all of these pathways, which may enable researchers to develop new treatments that help slow or stop the disease."

The study examined the DNA from more than 4,000 ALS patients and 5,000 control subjects of Caucasian origin. Samples were contributed from a total of 13 sources in the United States and Europe, including Belgium, France, the Netherlands, Ireland, Italy, Sweden and the United Kingdom. Researchers found that those individuals with a specific genetic signature within a region on chromosome 1 had an age of onset approximately two-and-a-half years earlier (56.5-years-old) than those without the genetic signature (59-years-old). In addition, the study confirmed known genetic risks for ALS and suggested novel regions that merit more study.

This new research was conducted by The International Consortium on Amyotrophic Lateral Sclerosis Genetics (ALSGEN), and analyzed by Carl Langefeld, Ph.D., of Wake Forest Baptist Medical Center in Winston-Salem, North Carolina. The ALS Association convened this consortium in order to maximize resources and therefore the ability to identify genetic variations that influence age of onset or susceptibility to ALS.

"Although a 2.5 year delay in the onset of ALS may not seem large, it is very important as it is comparable to the average survival time once diagnosed with ALS. The fact that it is associated with such a significant change in the age of ALS onset hints at a role in the rate of progression, maybe in accelerating the disease process," said Dr. Langefeld. "The consistency of this locus' effect across the 13 Caucasian cohorts is remarkable and underscores its broad impact."

Bryan J. Traynor, M.D., Ph.D., Investigator and Chief of the Neuromuscular Diseases Research Unit at the National Institutes of Health noted: "Unraveling the genetics of Lou Gehrig's disease is essential to our understanding of how the disease works and ultimately provides targets for the development of treatments designed to slow progression. The current research represents an important first-step in understanding the sporadic form of the disease, and sets the stage for larger follow-up studies in the future."

Researchers are now examining genes in this region to determine which are responsible for this effect. In addition to this chromosomal region, other genes and environmental factors are also likely to influence age of onset of the disease.

This work was supported by The ALS Association, the Packard Center for ALS Research at Johns Hopkins University, and Microsoft Research. This work was also funded in part by the Intramural Research Program of the NIA and NINDS. Analysis and computing resources were provided by the Wake Forest School of Medicine Center for Public Health Genomics.

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



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