PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Jim Fessenden james.fessenden@umassmed.edu 508-856-2688 University of Massachusetts Medical School @UMassMedNow

WORCESTER, MA A team of scientists led by researchers at the University of Massachusetts Medical School (UMMS) and the University of Miami Miller School of Medicine (UMMSM) have identified what is likely a key genetic pathway underlying bipolar (manic depressive) disorder, a breakthrough that could lead to better drugs for treating bipolar affective disorder, as well as depression and other related mood disorders.

The new findings, published online this week in Nature Molecular Psychiatry, show that a rare genetic dwarfism called Ellis van-Creveld (EvC) syndrome protects against bipolar affective disorder. The discovery was made thanks to decades of translational research in a few Old Order Amish families of Pennsylvania with a high incidence of both diseases. Forty years of documented research across multiple generations showed that no person with EvC has been reported with bipolar disorder.

"No one doubts that bipolar affective disorder has an important, disease causing genetic component," said neurologist and geneticist Edward I. Ginns, MD, PhD, professor of psychiatry at UMMS and lead author of the study. "In our search for the causes of bipolar affective disorder, this is a paradigm changing discovery that could lead to better treatments."

Bipolar affective disorder is a common psychiatric illness characterized by recurring swings from periods of high energy and mania to periods of low energy and sadness. During periods of mania the need for sleep is reduced and a person feels or acts abnormally happy, energetic and impulsive. They often make poorly thought out decisions with little regard for the consequences. Cycles of depression may include crying, poor eye contact with others, and a negative outlook on life. Patients suffering from bipolar disorder have a higher risk for suicide and self-harm and suffer from other ailments, such as heart disease, related to poor lifestyle choices.

Though many factors likely contribute to onset of the disease, various studies over the years have provided ample evidence that there is an important genetic component to the illness. However, previous attempts to isolate individual genes connected to bipolar disorder have been unsuccessful.

In her research among the Old Order Amish, which extends back more than 40 years, Janice A. Egeland, PhD, professor emerita of psychiatry and behavioral sciences at UMMSM and co-author of the current study, found that both EvC and bipolar were prevalent in an extended family descended from the same progenitor. Both conditions clearly travelled together over the generations in a few families extending from this same pioneer. Yet no person with EvC was ever reported with bipolar disorder despite decades of research across multiple generations.

"Few research efforts can claim to have extended over half a century using various building stones to reach a goal," said Dr. Egeland.

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Rare genetic disease protects against bipolar disorder