FOR IMMEDIATE RELEASE

New Research Shows Link Between ALS and Another Motor Neuron Disease

Washington, D.C. (October 1, 2012)—New research by scientists who were funded by The ALS Association shows that amyotrophic lateral sclerosis (ALS) and another disease of motor neurons called spinal muscular atrophy (SMA) are linked at the molecular level. The discovery, announced on September 28 in the journal Cell Reports, provides new insights into the disease process in both diseases.

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.

“This new finding will help accelerate the understanding of the causes of ALS because scientists have now identified a critical link between two very different diseases that both cause the degeneration of motor neurons. That link is likely to play an important role in the ALS disease pathway,” according to The ALS Association Chief Scientist, Lucie Bruijn, Ph.D.

ALS affects adults, while SMA affects children. However, both diseases are caused by the death of motor neurons, cells that control muscle and allow movement. One cause of ALS is a mutation in a gene called FUS. SMA is caused by mutation in a gene called SMN. In this new study, the team investigated the interactions of the FUS protein with the SMN protein. They found that the two proteins physically link up in the cell nucleus. That discovery was the first indication that a protein involved in ALS interacts with the protein involved in SMA. The finding suggests that this pathway may be disrupted in both diseases.

The research was led by Robin Reed, Ph.D., Professor of Cell Biology at Harvard Medical School in Boston, Massachusetts, working with a team of scientists from the United States, the United Kingdom and China. The ALS Association contributed funding to support two of the researchers associated with the study through its Translational Research Advancing Therapies for ALS (TREAT ALS™) program, which supports a diverse portfolio of research every year in order to find treatments and a cure for Lou Gehrig’s Disease.

This new study is also important because it builds on previous research that showed that SMA causes a decrease in nuclear structures called “gems,” which are believed to play a role in processing genetic information. This new research found the same decrease in gems in ALS patients with FUS mutations, further strengthening the case that the two diseases share a common pathway, at least in those ALS patients with FUS mutations.

“This important study will help us understand how FUS mutations cause ALS,” Dr. Bruijn said. “We are also encouraged because it may lead us to more rapid development of treatments, since we can take advantage of advances made in the understanding of spinal muscular atrophy as we pursue this new discovery.”

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.