For a long time, neuromuscular diseases such as muscular dystrophy, ALS, and inclusion body myopathy were thought to be caused as a result of toxic clumps of proteins such as TDP-43. It was believed that these proteins build up in the muscles, and the body, unable to diffuse them, is faced with the consequences.
A recent discovery shows researchers may have been wrong.
New research by scientists at the University of Colorado Boulder has shown that proteins such as TDP-43 build up in healthy individuals too. That means the proteins themselves can’t be a cause of illness.
Why weren’t researchers able to see this before, you may ask? It’s because these proteins come and go. They’re actually an essential part of muscle development. However, in a healthy person, after the muscle grows, the proteins dissolve and the muscle goes on to work like normal. That means at any given moment these proteins may or may not be present in the muscles.
This research was confirmed with a study which manually removed TDP-43. Without the proteins, the muscle did not grow.
So that means TDP-43 and other proteins aren’t actually the cause of neuromuscular diseases at all right?
Well, kind of.
The Real Cause
Researchers figured out that what actually causes neuromuscular diseases is the body’s inability to break up the clusters of proteins originally used for muscle growth.
In a healthy person, scientists describe these proteins as dissolving like sugar crystals after the muscle grows. But there’s something in people with neuromuscular conditions that stops this from happening.
This realization is extremely promising for future discoveries in the field. By understanding that the proteins themselves are normal, scientists can focus their research more narrowly on why the proteins aren’t dissolving after the muscle fibers have grown.
Understanding more concretely how these conditions work changes our approach to research. In the future, this could mean more effective treatment options for muscular dystrophy, ALS, and other neuromuscular diseases. While research isn’t a speedy process and we still have a long way to go, every new discovery is a step toward better patient care.
You can read more about this research, and the full story of this exciting discovery here!