SAT-096 Genetically Determined Deficiency of Omega-3 Polyunsaturated Fatty Acids as a Cause of Hyperprolactinemia
Abstract
Abstract Disclosure: S. Kalinchenko: None. L. Vorslov: None. T. Sviderskaya: None. V. Kononova: None. V. Chepykova: None. A. Kan: None. The FADS1 and FADS2 genes encode the enzymes delta-5 desaturase (Δ5-desaturase) and delta-6 desaturase (Δ6-desaturase), which play essential roles in the metabolic pathways of polyunsaturated fatty acids (PUFAs). These enzymes catalyze desaturation reactions, introducing double bonds into the carbon chains of fatty acids. Polymorphisms in these genes are significant factors contributing to Omega-3 PUFA deficiency. Scientific studies have confirmed that this deficiency affects the development of hyperprolactinemia by disrupting dopaminergic regulation. Genetically determined low desaturase activity may be a potential cause of hyperprolactinemia. We aim to present data on the possible association between polymorphisms in the FADS1 and FADS2 genes and the development of hyperprolactinemia. Material and Methods: The study included three patients (aged 16, 21, and 32): two women and one man with newly diagnosed hyperprolactinemia (514–784 mIU/L). Omega-3 Index measurements and genetic testing for polymorphisms in the FADS1 and FADS2 genes were performed for all participants. Personalized doses of Omega-3 PUFAs were prescribed, and prolactin levels were reassessed after three months. Findings: Among patients with newly diagnosed hyperprolactinemia at a young age, polymorphisms in the FADS1 and FADS2 genes were detected, resulting in reduced desaturase enzyme activity. he Omega-3 index of all participants in the study ranged from 3.5% to 7.19%, which is below the recommended WHO level (>8%). After three months of individualized Omega-3 PUFA supplementation, prolactin levels were reassessed. The mean prolactin level before treatment was 657.67 mIU/L (SD 135.83 mIU/L), and after treatment, it decreased to 261.07 mIU/L (SD 36.84 mIU/L). Dopamine agonists were not used. Interpretation: Omega-3 PUFAs are crucial for cell membranes. Eicosapentaenoic and docosahexaenoic acids modify the composition of membrane phospholipids, influencing their integrity, fluidity, and selective permeability. These properties are essential for the functioning of receptors, neuronal signal transmission, and the maintenance of cell integrity. Additionally, Omega-3 PUFA metabolites (eicosanoids and docosanoids) are known to have anti-inflammatory effects, protecting neurons from damage caused by inflammation and oxidative stress.Genetic polymorphisms in the FADS1 and FADS2 genes, which lead to reduced activity of desaturase enzymes, play a key role in the metabolism of Omega-3 PUFAs. People with such genetic changes have an increased need for supplements containing eicosapentaenoic and docosahexaenoic acids to prevent Omega-3 PUFA deficiency. Conclusion: It is recommended to incorporate the analysis of FADS1 and FADS2 polymorphisms in future research on the biological effects of Omega-3 PUFAs, including their impact in hyperprolactinemia. Presentation: Saturday, July 12, 2025