Scientists discover new C9orf72 disease pathway | Courtesy of Shutterstock
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Amanda Rupp | Oct 30, 2016

Scientists discover new C9orf72 disease pathway

A team of scientists recently published a new study in the journal Cell describing the unique proteins produced from the C9orf72 gene, which is the most common genetic disruption behind ALS.

This genetic protein stops important parts from assembling inside the cell’s protein-creating system.

ALS, a progressive neurodegenerative disease, damages nerve cells located in the spinal cord and the brain. ALS patients gradually lose all muscle capabilities within two to five years after they receive their diagnoses. Scientists have not yet discovered why veterans are two times more likely to have ALS than the general public.

As of today, there is no cure that the U.S. Food and Drug Administration has approved for ALS. This research, supported by The ALS Association, will affect the future of ALS studies for potential treatments and cures for the disease.

“This important study advances our understanding of the pathogenesis of ALS due to the C9orf72 mutation,” Dr. Lucie Bruijn, Chief Scientist for The ALS Association, said. “This will help us develop therapies to prevent or mitigate the effects of interference with RNA processing demonstrated here. The research also suggests there may be common mechanisms at work in other forms of ALS as well, making these results even more important for understanding the disease as a whole.”

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