AI Article Synopsis
- Bipolar disorder (BD) is a mental health condition marked by severe mood swings, affecting about 1% of the population, with genetics and environment playing a role in its development.
- * This study focused on analyzing gene variants in three families with BD using whole-exome sequencing, examining six patients in total.
- * Researchers identified seven genes potentially linked to BD, including two novel variants, and emphasized the need for larger studies to explore these findings' implications for diagnosis and treatment.
Article 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 ( = 6 patients) with bipolar disorder using whole-exome sequencing.
Results: Seven genes (, , , , , , and ) were identified as possibly associated with BPD. In addition, two novel variants were presented in the (c.1214T>G) and (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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614438 | PMC |
| http://dx.doi.org/10.1159/000539115 | DOI Listing |
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