UMass researchers identify bipolar disorder genetic pathway

A team led by researchers at the University of Massachusetts Medical School (UMMS) and the University of Miami Miller School of Medicine (UMMSM) has identified a genetic pathway that could lead to better drugs for treating bipolar affective disorder, as well as depression and other related mood disorders.

The findings, published in “Nature Molecular Psychiatry,” show that a rare form of genetic dwarfism called Ellis van-Creveld (EvC) syndrome protects against bipolar affective disorder, UMMS said in a release. Forty years of documented research across multiple generations of Old Order Amish families of Pennsylvania with a high incidence of both diseases showed that no person with EvC has been reported with bipolar disorder.

“In our search for the causes of bipolar affective disorder, this is a paradigm changing discovery that could lead to better treatments,” neurologist and geneticist Edward Ginns, MD, PhD, professor of psychiatry at UMMS and lead author of the study said in a statement.

EvC disrupts the signaling pathway known as sonic hedgehog (Shh), he said, and the new research indicates this plays a role in bipolar disorder. New drugs could manipulate the Shh protein function, said Ginns, and change treatment for the affected mental health conditions.

According to Ginns, drugs already in clinical trials for other medical conditions that target Shh protein signaling may have the potential to be better treatments for bipolar disorder.