Metabolomic and molecular genetic markers of epilepsy in children with obesity

Epilepsy is one of the important problems of modern neurology. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Currently, various aspects of the etiopathogenesis of epileptic seizures against the background of obesity are actively studied. Objective. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity in order to develop a personalized approach to the diagnosis of this pathological condition. Materials and methods. The study included 22 patients aged from 1 year to 16 years (mean age 11.7 years): 16 patients with various epileptic syndromes against the background of obesity and 6 patients of the comparison group. The study of the profile of 60 organic acids in urine was carried out by high performance liquid chromatography and tandem mass spectrometry. Whole exome sequencing was performed in 5 patients using a Helicon G50 genetic analyzer. Results. In the group of patients with epilepsy against the background of obesity, the upper reference limit of a number of markers of the Krebs cycle (fumaric and 2-ketoglutaric acids), bacterial dysbiosis and lactic acid levels were exceeded. Also, in the sample of patients, in contrast to the comparison group, an increase in the levels of a number of markers of mitochondrial dysfunction was found. Whole exome sequencing of 5 patients with epilepsy against the background of obesity did not reveal known pathological mutations. Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity. Molecular genetic testing of a number of patients did not reveal significant pathological mutations. The results of the study confirm the importance of a personalized approach to the diagnosis and treatment of this pathological condition and further study of metabolomic and molecular genetic markers of this pathological condition.