Monday, December 1, 2014

Rare Genetic Disease Found to Protect Against Bipolar Disorder

Scientists lead by researchers at university of Massachusetts Medical School and University of Miami Miller School of Medicine believe they have identified an essential pathway that influences bipolar disorder. They believe their findings can lead to a better treatment of bipolar disorder and other related mood disorders. The research was based on Old Order Amish families in Pennsylvania who had a high occurrence of bipolar disorder and have a rare genetic dwarfism known as Ellis van-Creveld (EvC) syndrome. Using 40 years of documentation across several generations, researchers found that no person with EvC ever reported with bipolar disease. These finding lead researchers to believe that this genetic conditions protects against bipolar affective disease.
            

Bipolar affective disorder is an illness known for recurring swings of mania to periods of extreme sadness and depression. Periods of mania usually involve a person with abnormally high energy leading to sleep reduction. A person is abnormally impulsive, happy, and energetic. The periods of depression are characterized by crying, and a negative perception of the world.

Studies have already proven that there are genetic components that lead to the illness. Genetic mutations that disrupt a signaling pathway called Sonic Hedgehog (Shh) produce EvC dwarfism. Statistical analyses found a significant negative correlation between EvC and bipolar disorder. I believe this study offers insight on improving treatment for devastating disorders such as bipolar disease. It is interesting to see how beneficial an observational based study can be. Further, it makes me wonder what other mechanisms could be interacting and inhibiting one another that have yet to be discovered. Overall, this study has both medical and research-based implications.

1 comment:

  1. I think it would be great if they could find a background of where bipolar disorder comes from. It affects peoples lives immensely. If researchers can find better treatment for this disorder it can help many peoples lives who are struggling day to day with it.

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