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Study links mutant gene to sticky proteins in Lou Gehrig’s disease

FEB 08, 2013
Physics Today
Science : One of the tell-tale signs of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is the accumulation of proteins in the neurons that control muscle movement. Researchers from Ludwig-Maximilians University in Munich and the University of Antwerp in Belgium have determined that a genetic mutation common in ALS patients appears to be responsible for the creation of the sticky proteins. If the mutated genetic area is translated , it creates dipeptide repeat (DPR) proteins, which don’t normally occur in humans and tend to clump together. When the researchers looked for DPR in ALS patients, they found the proteins in the brain tissue of only the patients who showed the genetic mutation. Further study is needed to verify the findings, to rule out other possible factors, and to determine what role DPR proteins play in the neurodegeneration of ALS.
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