Edwin Chapman, who works at the University of Wisconsin-Madison, has been studying neurons for most of his career. He and his team recently made a discovery regarding SYT1-associated neurodevelopmental disorder.

This study was published in Neuron. 

The Beginnings

This research began in 2015 when Chapman got an email from a mom asking for his assistance finding a treatment for her 2 year old daughter. She had received intense physical therapy in order to be able to walk and was still not speaking or playing like a kid her age should be. These developmental setbacks were due to a mutation in a gene called SYT1.

The mom was determined to figure out exactly what this gene mutation meant and how she could find a treatment for her daughter. She introduced the researchers to another family with the mutation as well and Chapman decided to take the challenge.

Ultimately, his team was able to figure out how the mutations in this gene lead to disease. They also found a potential therapy.

There are only 11 confirmed cases of this disease. The symptoms include-

• Developmental delays
• Involuntary movements
• Agitation
• Eye abnormalities

The Study

Chapman and his student Mazdak Bradberry were the brains behind this study. It all started with investigating neurons.

Information travels by electrical pulse in neuron cells. This information triggers calcium to come into the cells, and the SYT1 gene collects this calcium. After collection, the SYT1 protein triggers the release of neurotransmitters to carry necessary information to other neurons.

Chapman and Bradberry found that for each patient, the SYT1 mutation was interfering with the release of these transmitters. The SYT1 protein became less and less responsive to calcium.

A Potential Treatment

These findings led the team to believe that by enhancing calcium signaling, they may be able to compensate for the effects the mutation was causing.

4-AP is a drug FDA approved for multiple sclerosis (MS). It works by prompting an influx of calcium into the  neurons. Therefore, the team suspected it may be beneficial for SYT1 patients.

The researchers utilized a technique (developed by Loren Looger) which makes neurons fluoresce while they are releasing neurotransmitters. They found that the neurons with the mutated proteins only flashed color very dimly. When they added 4-AP, they became much brighter.

Thankfully, because this drug has already been approved for another condition, permission to use it for this new indication should come more quickly.

The researchers have cautioned the families that this therapy would not be a cure. This is because it isn’t able to reverse any damage already done. However, it may be able to lessen symptoms, which could be life changing. As patients are likely to injure themselves through the behaviors this disease causes, a treatment could significantly improve the quality of life for patients.

For a condition that currently has no options, any relief a therapy could bring would be beneficial.