Cell Transportation Discovery Could Yield ALS Treatment

Cell Transportation Discovery Could Yield ALS Treatment
Antibodies surround a healthy motor neuron cell (left) and
move to the outer cell membrane in ALS (right).
It's the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but until now scientists weren't sure how a specific gene caused these devastating diseases. Now researchers are one step closer to solving this incredibly complex puzzle, offering hope for treatment.
The researchers developed the first antibodies to track what this gene, called C9orf72, does in both a normal and diseased cell. They discovered that a specific protein from this gene might help transport other essential proteins in and out of a motor neuron cell's nucleus, the command centre of the cell. Their findings were recently published in the Annals of Neurology.
A protein from C9orf72 normally surrounds the nucleus of a motor neuron cell. But in ALS or FTD, this protein moves to the outer membrane of the cell. When this protein is misplaced, it can't help other proteins move in and out of the cell's nucleus and the cell dies.
This transportation normally depends on a cascade of events that acts like a relay race. DNA, the cell's instructions, is converted into RNA which then makes proteins for the cell that allow it to carry out its functions. Just like a relay, when a protein from C9orf72 disappears from surrounding the nucleus, it can no longer help transport other essential proteins that keep the cell alive.
Next, the researchers want to understand how C9orf72 is involved in transporting these proteins and potentially target the pathway with drugs. They believe that the pathway is easily targeted with drugs that already exists, and if they can restore function to the pathway, they can develop treatment options for ALS and FTD.
Based on material originally posted by University of Toronto.