Two Michigan State University College of Osteopathic Medicine graduate students are advancing the science behind genetic mutations that cause rare forms of epilepsy and movement disorders.
Huijie Feng, a doctoral student in the Department of Pharmacology and Toxicology, and Casandra Larrivee, a master’s student in the comparative medicine and integrative biology program, have found that different mutations in the GNAO1 gene in mice correlate to different characteristics, or phenotypes, of movement disorders in humans.
The findings are published in PLoS ONE.
The work adds to research started in 2013 by Richard Neubig, professor and chair of MSU’s pharmacology and toxicology department, whose focus at that time was on cardiovascular disease.
While using mice with a GNAO1 protein mutation, one unexpectedly had a seizure. This begged the question of whether the mutation could be linked to a seizure disorder.
Further investigation indicated that these mice were prone to seizures and soon after, four children who earlier had been diagnosed with Early Infantile Epileptic Encephalopathy, or EIEE, were also found to have the same mutations.