ST. LOUIS – A boy, a mouse, and scientists at Washington University in St. Louis are taking a first-of-its-kind approach to unlock the mysteries of autism.
Jake Litvag is a funny charming and social 17-year-old from Creve Coeur. His autism is inspiring the work of scientists at Washington University.
“There is only one Jake, so we can’t go back in time and watch how Jake’s brain developed and how and when abnormalities occurred,” said Dr. Joe Dougherty, professor of genetics and psychiatry at Washington University.
But researchers can watch how the brain of a young mouse develops.
“It was so cute, I actually got to look at it for a minute. It kept me focused into the mice,” Jake said.
Jake has a mutation in the MYT1L gene. Washington University researchers bred mice and grew stem cells derived from Jake’s blood to find ways to treat his disorder and look for answers to the larger puzzle of autism.
“The first answer we’d like to get is just what’s happening in Jake’s cells,” said Dr. Kristen Kroll, professor of developmental biology at Washington University.
Researchers in the lab are making a brain model from Jake’s stem cells that can give them information about his brain function and development since birth.
“One of the nice things about going back and forth between human cellular models and mouse models is that human cells or organoids, or what we call mini-brains, are never going to be moving living animals in a dish, but they recapitulate Jake’s own genetics,” Kroll said. “They have his genetic background, they have his mutation, and in the mouse, you can model things like behavior you know neuropathology of the brain.”
Dr. Dougherty added, “This is the first time in the world this gene has been looked at this way in this form of autism.”
Jake’s psychiatrist, Dr. John Constantino, proposed the genetic testing but funding was needed to begin the research at Washington University.
“We have an amazing network of family and friends who got behind us and they get it,” said Lisa Litvag, Jake’s mom.
Jake’s family raised $75,000 to begin the research, which attracted a $4 million grant from the National Institutes for Health.
“We just explained to them what was happening here and what was needed, and they stepped up immediately, and I think that was really the contributing factor,” said Joe Litvag, Jake’s dad. “It wasn’t so much for us. We just kind of rallied the troops.”
Answers are already forthcoming. For one, Jake’s gene deletion was not caused by his parents. And now they’re getting answers about behavior.
“It seems like kids like him, often with the same mutations, often have some of the same features,” Dr. Dougherty said. “They often have hyperactivity a little bit, they have obesity. With autism, what we found when we evaluated the mice is that compared to their siblings, they were a little more active than their siblings.”
This research may not help Jake directly but find ways for other parents to intervene earlier for autistic children who have serious physical challenges such as epileptic seizures.
“It’s really a fun time to be a scientist doing this kind of work and extra special to meet wonderful people like Jake and his family, who really bring a personal side of knowing why we’re doing it,” Dr. Kroll said.