DNA Sequencing Finds Potential Genetic Mutations Tied To Bipolar Disorder

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Researchers and medical professionals alike have agreed for years that genetics likely play a significant role in the development of bipolar disorder, but they may finally be getting close to pinpointing exactly which genes contribute to the disorder.

In a report published in JAMA Psychiatry, researchers at Johns Hopkins University School of Medicine say they have identified 84 potential inherited gene mutations that they believe may contribute to the most severe forms of bipolar disorder. Bipolar disorder is characterized by alternating periods or episodes of severe depression and extreme mania that can be debilitating and lead to severe issues in a person’s life.

The team of researchers says their study using state-of-the-art genome sequencing is one of the first to examine the rare genetic variations in people with bipolar disorder and may provide insight into the biological mechanisms involved in the disorder.

While they believe the findings can provide a foundation for further research to refine exactly which genetic variations are linked to bipolar disorder, they say their study also shows the need for further research with larger patient populations to be more precise.

“One thing we learned is that it will take genetic data from at least several thousand more people with bipolar disorder to confirm that these rare mutations do in fact directly cause the disease,” said Fernando Goes, M.D. “We are working with the Bipolar Sequencing Consortium to gather more data and collaborators so we can definitively figure out causes.”

According to Goes, past research focused on somewhat common single-letter DNA changes that individually would have little impact, but collectively could potentially contribute to the disorder. But, Goes’ team says they believe looking for rarer mutations which are likely to have a larger impact holds more potential for insight into the disease.

To begin, the team evaluated eight families with a history of bipolar disorder running through multiple generations, totaling 36 family members with the disease. By examining their genomes, the researchers identified 84 rare gene variations which were likely involved in the development of bipolar disorder.

From there, they compared the versions of these genes present in 3,541 people diagnosed with bipolar disorder and 4,774 control participants without the disorder. The findings showed that the mutations were common among those with bipolar disorder, but the researchers say there isn’t enough data to definitively tie the rare mutations to bipolar disorder.

“Once we can confirm that these rare mutations are associated with bipolar disorder in other samples, our plan will then be to integrate them with the more subtle, common mutations from the earlier genomic studies to better understand the cause of bipolar disorder,” said Goes.

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