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Researchers Funded By The ALS Association Find How Gene Mutations Cause ALS And Other Brain, Muscle And Bone Diseases

WASHINGTON, March 3, 2013 /PRNewswire-USNewswire/ -- Researchers supported by The ALS Association have discovered how mutations in new amyotrophic lateral sclerosis (ALS) genes cause not only ALS but also other diseases of the brain, muscle and bone. The results also shed light on the disease pathways of ALS due to other genes and may set the stage for development of new treatments to interrupt these processes. The study was published in the journal Nature.

ALS, also known as Lou Gehrig's Disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. The disease robs people of the ability to walk, to talk and even blink an eye. It traps them inside a body they no longer can control and ultimately prevents them from breathing as it takes their life.  There is no known cause of the disease, although military veterans are approximately twice as likely to develop ALS as the general population.

The research was led by J. Paul Taylor, M.D., Ph.D., of the Department of Developmental Neurobiology at St. Jude Children's Research Hospital in Memphis, Tennessee, along with colleagues from elsewhere in the United States and Europe. They received funding through The ALS Association's Translational Research Advancing Therapies (TREAT ALS™) program, which funds a diverse portfolio of research at leading institutions all over the world.

The abovementioned researchers discovered that mutations in genes for certain RNA-binding proteins cause them to switch between alternate shapes and aggregate, and to promote the same conformational change and aggregation of the normal protein. This behavior has been seen in other neurodegenerative diseases, collectively called prion diseases, including mad cow disease and Creutzfeldt-Jakob disease. In those diseases, this ability leads to spread of the disease throughout the nervous system.

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