The ALS Association

ALS Ice Bucket Challenge Progress

Researchers Find Genetic Region Influencing Age at Which People Develop ALS

September 7, 2012

genes1The ALS Association announced today 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.

“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. 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.

“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.”   

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. 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.

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