Investigation of Genetic Changes in Three Families with Bipolar Disease

Abstract

Introduction: 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 is 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, we aim to determine the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation. Methods: In this study, we evaluated single nucleotide gene variants in three families (n = 6 patients) with bipolar disorder using whole-exome sequencing. Results: Seven genes (TMTC1, DGKH, STARD9, ITIH1, MARCKS, CSMD1, and ADRA2B) were identified as possibly associated with BPD. In addition, two novel variants were presented in the TMTC1 (c.1214T>G) and STARD9 (c.8288C>G) genes. Conclusion: Prospective studies in larger patient groups are required to determine the role of these genes in the etiology of the disease and their potential in diagnosis and treatment. To the best of our knowledge, this is the first methodically comprehensive study conducted in our country and can contribute to the identification of genes that may be associated with BD and the etiopathogenesis of the disease. (c) 2024 S. Karger AG, Basel