Strong Kids

New Mouse Model May Open New Autism Treatment Research Avenues

Aug. 8, 2014

autism brain connectionsWhen a scientist comes up with a great idea for new research, the biggest obstacle is often funding. Landing those big federal grants takes seed money and proof that the idea is worth pursuing, but seed money isn’t readily available.

Luckily for Nina Schor, M.D., Ph.D., the William H. Eilinger Chair of Pediatrics at the University of Rochester, she had an endowment she could take advantage of to follow a hunch about a brain receptor and its potential role in autism. Because of that forward-thinking donor, that research has resulted in a new mouse model that may give researchers a new avenue for testing drugs for autism. Nature Publishing Groups’ Translational Psychiatry published the study online last week.

Schor had been studying p75 neurotrophin receptors in her long-standing neuroblastoma research, but she also knew that p75NTR is involved in several body processes that have been implicated in the development of autism.

When Schor and her colleagues prevented mouse brains from making p75NTR in one autism-associated type of cell in the cerebellum, what they found was that not only does the mouse’s cerebellum resemble that of children with autism, but the mouse also behaves much like children with autism. They don’t engage in typical social behaviors of mice and instead, ignore stranger mice and lack curiosity about their surroundings. They also jump twice as much as typical mice, which is like a “stimming,” or self-stimulatory, behavior typical in children with autism.Nina Schor

“Whether or not p75NTR turns out to be abnormal in children with autism,” Schor explained, “these studies still hold the promise of helping us explain the mechanisms behind the component behaviors of children with autism.

Schor plans to continue the research, focusing on more behavioral testing, finding evidence of whether children with autism have a p75NTR deficit in their cerebellum and starting pharmaceutical testing to see whether there is a drug that can replace the role p75NTR plays in that part of the brain.

“It’s a long way from a mouse model to a successful treatment in humans, but this is a good clue,” Schor said.

And without the funding from the William H. Eilinger endowment, Schor may not have been able to follow her hunch down this very promising path.

Schor’s co-authors on the paper describing the study are Louis T. Lotta, Jr., Katherine Conrad, and Deborah Cory-Slechta, Ph.D., professor of Environmental Medicine. The study was funded by the William H. Eilinger Endowment of Golisano Children’s Hospital at the University of Rochester Medical Center and by a pilot grant from the Strong Children’s Research Center.