Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder.

ABSTRACT: Bipolar disorder is a common mental illness occurring in approximately 1% of individuals and requires lifelong treatment. Although genetic factors are known to contribute to this disorder, the genetic architecture has not yet been completely clarified. Our initial trio-based exome sequencing study of bipolar disorder showed enrichment of de novo, loss-of-function (LOF) or protein-altering mutations in a combined group with bipolar I and schizoaffective disorders, and the identified de novo mutations were enriched in calcium-related genes. These findings suggested a role for de novo mutations in bipolar disorder. The validity of these statistical associations will be strengthened if the functional impact of the mutations on cellular function and behavior are identified. In this study, we fo

SUBMITTER: Nakamura T 

PROVIDER: S-EPMC8444452 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature