Investigation of genetic changes in families with bipolar disease

Bipolar disorder (BD) is a serious psychiatric disorder characterized by mood swings (depressive and manic phases) that can strongly affect the quality of life of patients and their families. The lifetime prevalence of BD in the general population has been reported as 1%. The pathogenesis of BD is unknown; however, comprehensive epidemiological studies have shown that both genetic and environmental factors play a role. Within the scope of the current project, it is aimed to determine the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation. For this purpose, pathogenic genes were determined by exome sequencing method and genetic susceptibility was evaluated in a patient group consisting of six individuals with familial segregation from three families with bipolar disease. Sixteen variants have been identified as possibly associated with bipolar disorder. Among these variants, novel gene (TMTC1, ITIH1) variants, which have a role in the pathogenesis of BD, and candidate gene (CACNA1C, DGKH) variants that were reported to be associated with BD were found. Prospective studies in larger patient groups are needed to determine the place of these genes in the etiology of the disease and their potential in the diagnosis and treatment.