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AANS Neurosurgeon | Volume 28, Number 3, 2019


Restoring Nerve-Muscle Communication in ALS

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Patients with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, lose muscle control as nerve cells or neurons in the brain and spinal cord degenerate and can no longer send signals to muscles. Previous studies have identified that problems at the synapse, the point where signals jump from one neuron to another neuron or to a muscle, could contribute to that disconnect. But it’s unclear what causes these problems. New research from the Jefferson Weinberg ALS Center has identified a new mechanism by which the buildup of toxic proteins – a common hallmark of ALS – disrupts neuronal transmission. The findings provide a groundwork for understanding how to maintain the nerve-muscle connection in ALS, and could lead the search for new therapies. 

The culprit behind inherited cases of ALS is frequently an error in the C9orf72 gene, which incorrectly instructs the cell to over-produce a repetitive sequence of proteins, called dipeptide repeats (DPRs). One of the most abundant of these DPRs is the GA protein, which forms aggregates and gradually causes toxicity that can kill the neuron.

“Our collaborators in Germany had found in a previous mouse model where GA is over-produced that there are deficits in motor function,” explains Davide Trotti, PhD, professor of neuroscience, Research Director of the Weinberg ALS Center and co-senior author of the study. “But we did not know what GA was doing in the neuron itself.”

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