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Study Uncovers Molecular Pathway Behind Bipolar Affective Disorder

Update Date: Oct 16, 2014 10:40 AM EDT

New research has uncovered the underlying molecular pathway associated with Bipolar Affective Disorder, paving the way for developing of improved drugs and treatment.

The findings were result of decades-old research on the Old Order Amish families in Pennsylvania which have high prevalence of a rare form of dwarfism called Ellis van-Creveld (EVC) and BAP but there have been no documented evidence of any of the members affected with BAP. This was shown by research done on the community over a period of 40 years by Janice A Egeland, PhD, professor emerita of psychiatry and behavioral sciences at University of Miami Miller School of Medicine.

"What happened is the pieces of the puzzle came together more recently over the last several months. What we are reporting is that here's the phenomena that this rare genetic disorder, the mechanism in it which was not obvious years ago, that actually protects those individuals from getting bipolar disorder," Boston Globe quoted the study's lead author Edward I Ginns.

Based on this finding, researchers hypothesized that having EVC provided immunity against BAP.

Researchers then investigated the well known Sonic Hedgehog (SHH) signalling pathway. The disruption of the pathway is known to cause EVC. As statistical analysis confirmed a negative association between BAP and EVC, researchers concluded that SHH has a role to play in BAP and mood-related disorders.

"Since mutations causing EvC do so by disrupting Shh protein function, linking abnormal Shh signaling to major affective disorders provides a concrete molecular and medical basis for patients' symptoms that should help break down the stigma associated with mental illnesses. If we can understand more details of the Shh signaling pathway in bipolar disorder, it could dramatically change the way we diagnose and treat these conditions," Ginns said, according to a news release.

Researchers wrote that existing drugs undergoing clinical trials for correcting SHH pathway may prove effective against BAP.

The findings have been published in Nature Molecular Psychiatry.

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