Rare gene variants linked to bipolar disorder identified

Scientists from deCODE genetics and Amgen have made a significant discovery regarding bipolar disorder. They found that rare genetic variants in two specific genes, HECTD2 and AKAP11, may increase the risk of developing this mental health condition. Bipolar disorder involves extreme mood changes, including episodes of mania and depression. It is a severe illness that can lead to suicide if not treated. Currently, there are various medication options, but many can have challenging side effects, highlighting the need for better treatments. Over the past 15 years, research has advanced greatly in understanding the genetics of psychiatric disorders. Many genetic markers have been identified that relate to the risk of bipolar disorder. These markers usually represent common genetic variations, each contributing a small amount to the overall risk. The scientists used advanced genome sequencing from Iceland and the UK Biobank to analyze these rare loss-of-function variants. Their study confirmed that variants in HECTD2 and AKAP11 are linked to bipolar disorder. While AKAP11 has been connected to other mental health issues like psychosis and schizophrenia before, these findings regarding HECTD2 are new. The gene AKAP11 plays a role in guiding proteins within cells, while HECTD2 helps mark proteins for disposal. Both genes interact with another protein called GSK3β, which is affected by lithium, a common treatment for bipolar disorder. These findings suggest that understanding how these genes work could lead to new treatments for bipolar disorder. The research has been published in the journal Nature Genetics.