Molecular Pathway Behind Bipolar Affective Disorder Uncovered

First Posted: Oct 16, 2014 11:41 PM EDT
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Scientists have discovered the underlying molecular pathway that's associated with Bipolar Affective Disorder--one of a few mood disorders that are estimated to affect around 20.9 million American adults.

The findings were based on decades-old research on the Old Order Amis families in Pennsylvania that showed a high prevalence of a rare form of dwarfism known as Ellis van-Creveld (EVC) and BAP. However, the health issue had rarely been documented, according to researchers. 

"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," said lead study author of the Boston Globe, Edward I Ginns, in a news release. 

Researchers hypothesized that having EVC provided immunity against BAP. Furthermore, they investigated Sonic Hedgehog (SHH) signaling pathway. The disruption of this pathway is known to cause EVC and has an association that's linked between BAP and EVC. Researchers concluded that SHH plays a role 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 concluded. 

More information regarding the findings can be seen via the journal Nature Molecular Psychiatry.

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