Adding normal PLXNB1 into the patient’s cells allowed the neurites to grow to normal size, confirming the mutation in PLXNB1 caused the changes in neurite growth. “This is super exciting,” says Shcheglovitov. “This suggests that, potentially, using gene-based therapy, or another treatment that targets the PLXNB1 pathway, could be therapeutically relevant for patients with pediatric bipolar disorder.”
Before the results can lead to new therapies, researchers will need to conduct larger studies to determine whether other people with this disorder share these same differences. The power of this study, Lopez-Larson says, was combining multiple technologies to create a robust picture of what’s happening in the brain.
“The fMRI showed that the brain connections are atypical, at least in this particular child. And we also found that was true with the genetic piece as well,” Lopez-Larson says. “We were able to use different kinds of advanced technologies that revealed the same thing in different ways.”
- Written by Caroline Seydel
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In addition to Shcheglovitov, Yang, and Lopez-Larson, additional coauthors were from the following University of Utah departments and institutes: H.M. Arif Ullah and Mark Liebowitz (Neurobiology), Ethan Parker (Bioengineering), Bushra Gorsi and Mark Yandell (Human Genetics), Colin Maguire (Utah Clinical & Translational Research Institute), Jace King and Jeffrey Anderson (Radiology) and Hilary Coon (Psychiatry, Huntsman Mental Health Institute).
The research was made possible by support from the Utah Neuroscience Initiative and Utah Genome Project and published as, “Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder.”