A gene variant may increase the risk of bipolar disorder
| Jan 11, 2019, 13:08 IST
New research conducted at The Picower Institute for Learning and Memory at MIT found that the protein CPG2 is found in a significantly less amount in the brains of the people with bipolar disease. The study also found how specific mutations in the SYNE1 gene and how it is responsible for encoding the proteins undermine its expression and its function in neurons.
The study which was led by Elly Nedivi, professor in MIT’s departments of Biology and Brain and Cognitive Sciences, and former postdoc Mette Rathje, went beyond the regular reporting associations between genetic variations and psychiatric disease. Instead of that the team’s analysis and experiments show how differences in genes in patients with bipolar disorder could lead to specific physiological dysfunction for neural circuit connections, or synapses, in the brain.
The findings of the mechanistic detail and specifically provide new and potentially important information for developing novel treatment strategies and for improving diagnostics, Nedivi said.
However, the researchers are not suggesting CPG2 related variations in SYNE1 may be the cause of bipolar disorder but are likely to contribute to susceptibility of the disease. Interestingly they also found that sometimes a combination of a variant, as opposed to a single genetic difference, was necessary for significant dysfunction to become apparent in laboratory models.
“Our data fit a genetic architecture of BD, likely involving clusters of both regulatory and protein-coding variants, whose combined contribution to phenotype is an important piece of a puzzle containing other risk and protective factors influencing BD susceptibility,” the authors wrote.
The study which was led by Elly Nedivi, professor in MIT’s departments of Biology and Brain and Cognitive Sciences, and former postdoc Mette Rathje, went beyond the regular reporting associations between genetic variations and psychiatric disease. Instead of that the team’s analysis and experiments show how differences in genes in patients with bipolar disorder could lead to specific physiological dysfunction for neural circuit connections, or synapses, in the brain.
The findings of the mechanistic detail and specifically provide new and potentially important information for developing novel treatment strategies and for improving diagnostics, Nedivi said.
However, the researchers are not suggesting CPG2 related variations in SYNE1 may be the cause of bipolar disorder but are likely to contribute to susceptibility of the disease. Interestingly they also found that sometimes a combination of a variant, as opposed to a single genetic difference, was necessary for significant dysfunction to become apparent in laboratory models.
“Our data fit a genetic architecture of BD, likely involving clusters of both regulatory and protein-coding variants, whose combined contribution to phenotype is an important piece of a puzzle containing other risk and protective factors influencing BD susceptibility,” the authors wrote.