The ALS Association

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Carrie Munk
The ALS Association



Whole Exome Sequencing Reveals New ALS Gene

Washington, D.C. (February 19, 2015) — A gene that may cause more than one percent of all cases of ALS has been discovered through “whole exome sequencing” of more than 1,500 people with ALS. The gene, called TBK1, plays a role in clearance of damaged cell components, strengthening the belief that this clearance process, called autophagy, may play a central part in the ALS disease process. The study was published in the journal Science.

“This important discovery points strongly at the autophagy pathway, which has also been implicated from other studies,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D., M.B.A. “That will help us focus our efforts on understanding that process as a possible target for therapy.”

ALS (amyotrophic lateral sclerosis) 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.

The study, led by David Goldstein, Ph.D., of Columbia University, drew on the combined efforts over two dozen laboratories in six countries, highlighting the global and collaborative nature of ALS research today. The “exome,” or entire coding region of DNA, was sequenced from 2,874 people with ALS and 6,405 unaffected control individuals. Whole exome sequencing has emerged as a significant advance in gene hunting in the past decade.

Mutations in TBK1 were found in about 1.5 percent of ALS cases and only 0.2 percent of controls. The protein encoded by TBK1 interacts with two other proteins implicated in ALS, optineurin and p62, which also have roles in the autophagy pathway.

“We are strongly encouraged by this discovery,” Dr. Bruijn said. “Finding a new gene is always important, as it provides new ideas about the ALS disease process. The fact that TBK1 interacts with other known ALS genes gives us confidence that this pathway is likely to be critical in ALS and suggests that therapeutic strategies targeting this pathway should be pursued.”

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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