Spinal Muscular Atrophy is a devastating genetic disease that affects the central nervous system as well as other parts of the body. According to the Muscular Dystrophy Association, the primary symptom of SMA is weakness of voluntary muscles, with the muscles most affected located in the shoulders, hips, thighs, and upper back. Other complications caused by SMA can occur when muscles used in breathing and swallowing are affected. While there are several treatments available for SMA that halt progression of the disease, there is no cure at this time. Many researchers are actively searching for new breakthroughs and treatments. One of those researchers can be found in the University of Missouri Comparative Medicine Program.
Benjamin Olthoff, DVM, is a third-year resident from Sioux Center, Iowa. Olthoff attended Dordt University for his undergraduate studies and went on to attend the Michigan State University College of Veterinary Medicine. In 2017, Olthoff and his wife, Michelle, found their way to Mizzou, where he began a residency in the MU Comparative Medicine Program.
In the middle of that first year, Olthoff’s wife found out that she was pregnant. “We were very excited,” he said. “My son, Isaac, was born August 2018.”
It was a few months after Isaac’s birth that the Olthoffs received difficult news. “At Isaac’s four-month appointment our pediatrician mentioned that they were concerned about low muscle tone,” said Olthoff. “After several referrals and several months of waiting, we received a diagnosis of spinal muscular atrophy. We sort of knew it was coming, but that didn’t make it any easier.”
At this point the family went to a specialist in Kansas City and began applying for different treatments.
While working in the Comparative Medicine Program, Olthoff had joined a lab with his research mentors, Craig Franklin, DVM, PhD, DACLAM, and Aaron Ericsson, DVM, PhD. In this lab they study the gut microbiome, and Olthoff began to wonder if there was any microbiome research that focused on his son’s disease. “Once we received Isaac’s SMA diagnosis, I wondered if anybody had looked into a potential relationship between SMA and the gut microbiome,” he said. “I saw a potential need that I could fill. Maybe the gut microbiome could influence SMA progression or response to treatment.”
Shortly after Isaac’s diagnosis, Olthoff spoke with his research mentors about what he could do. They referred him to a Chris Lorson, PhD, a professor in the CVM’s Department of Veterinary Pathobiology and the Bond Life Sciences Center at Mizzou and associate dean for Research and Graduate Studies in the CVM. Lorson, operates a lab focused on SMA and leads a drug development company called Shift Pharmaceuticals, working to develop treatments for SMA. “He’s been extremely informative and supportive. It has been a comfort to know that there is somebody on campus that knows about SMA,” Olthoff said.
With the help of his mentors and Lorson, Olthoff’s research focuses on identifying gut microbiome changes in a mouse model of spinal muscular atrophy. “Identifying differences in the gut microbiome of those with SMA could be the launching point for additional research. For example, we could investigate how the gut microbiome influences disease progression or how the gut microbiome influences response to treatment.”
With his residency coming to an end this coming summer, Olthoff hopes to stimulate interest in somebody else about the interaction between SMA and the gut microbiome, so that they might continue his research.
Olthoff couldn’t help but express his gratitude toward the Comparative Medicine Program and the possibilities that it has given him. “You get so many opportunities to make a huge difference in the lives of people that are affected by SMA or any other disease that you get to work on,” he said. “The program here is pretty unique because of the wide range of resources and expertise available. When we find something we are passionate about, we are encouraged to pursue it and begin to solve important issues in the world.”
by Nick Childress