The ALS Association

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Brian Frederick
The ALS Association



New ALS Gene Supports Role for Neuron Transport Defects in Disease

Washington, D.C. (October 22, 2014) — In work supported by The ALS Association, researchers have announced the discovery of a new gene for ALS, which further implicates defects in the cellular transport system as a cause of the disease. The study was published in the journal Neuron, and a video abstract is available here.

ALS (amyotrophic lateral sclerosis), also known 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. 

The newly discovered gene, called TUB4A, encodes the tubulin 4A protein. This protein is part of the microtubule “cytoskeleton” of every cell, including motor neurons, the cells that die in ALS. Microtubules give structure to the cell and also transport many important molecules within the cell, including growth factors critical for neuron survival. Previous work has suggested that defects in microtubule transport of growth factors are a cause of neurodegeneration.

The new research was led by Vincenzo Silani, M.D., of the Istituto Auxologico Italiano in Milan, Italy; Christopher Shaw, M.D., of King’s College London; and John Landers, Ph.D., of the University of Massachusetts Medical School, Worcester, Massachusetts. Additional funding for the study was provided by the Motor Neuron Disease Association of the United Kingdom. Dr. Landers is also co-principal investigator for the United States arm of Project MinE, an international effort to sequence the genomes of at least 15,000 people with ALS, supported by The ALS Association.

To discover the TUB4A gene, the team looked for gene variations in more than 600 people with a familial form of ALS that was not due to known genes. They identified several variants in the TUB4A gene in six ALS cases, and they showed in cell culture that these variants caused defects in microtubule structure and transport.

“This discovery strengthens the evidence that transport defects in neurons can lead to ALS,” said Lucie Bruijn, Ph.D., M.B.A., Chief Scientist for The Association. “Strategies to overcome those defects may provide a route to development of therapy. This new gene also presents us with an opportunity to develop a new disease model, which may reveal further targets for drug development, to mitigate the effects of this mutation.”

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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