Department of Hospital Epidemiology, Medical Parasitology and Tropical Diseases, Russian Medical Academy of Continuous Professional Education, Moscow, Russia
Background. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Research on the correlation between obesity and epilepsy in children is quite controversial. Identifying various metabolomic and molecular genetic markers of epilepsy is an extremely interesting task, which will allow the development of diagnostic algorithms for this pathological condition. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity. Methods. The study included 24 patients aged from 1 year to 17 years: 16 patients with with epilepsy due to obesity and 8 patients of the control. The gender distribution was 15 girls and 9 boys. The study of the profile of 60 organic acids in urine was carried out by HPLC-MS. Targeted sequencing of mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) was performed using the NGS method. Results. In the case-group the upper reference limit of a number of markers of the Krebs cycle, mitochondrial dysfunction, bacterial dysbiosis and lactic acid levels were exceeded. Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity.
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Epilepsy is a chronic, heterogeneous neurological disorder. Its extremely high prevalence (it affects over 70 million people each year and results in 125,000 deaths) makes it one of the most important problems in modern neurology
[1]
Fine A, Wirrell EC. Seizures in Children. Pediatr Rev. 2020 Jul; 41(7): 321-347.
. Epilepsy is often accompanied by comorbidities such as cognitive and depressive disorders and obesity
[2]
Li YX, Guo W, Chen RX, Lv XR, Li Y. The relationships between obesity and epilepsy: A systematic review with meta-analysis. PLoS One. 2024 Aug 9; 19(8): e0306175.
. The etiopathogenesis of obesity in children with epilepsy is currently being actively studied. One factor contributing to weight gain in epileptic syndromes is the use of valproate. However, obesity in epilepsy may be associated not only with the use of anticonvulsants, but also with certain metabolic and molecular genetic characteristics of patients
[2]
Li YX, Guo W, Chen RX, Lv XR, Li Y. The relationships between obesity and epilepsy: A systematic review with meta-analysis. PLoS One. 2024 Aug 9; 19(8): e0306175.
. For example, Zhhou et al. performed a randomized linkage analysis of obesity and epilepsy and showed their relationship
[4]
Zhou K, Yang H, Chen R, Wang W, Qu Z. Causal relationship among obesity and body fat distribution and epilepsy subtypes. Front Neurol. 2022 Oct 26; 13: 984824.
. To this end, the authors conducted a two-sample study with Mendelian randomization for four indicators of obesity and epilepsy and its seven subtypes with reverse Mendelian randomization and multivariate Mendelian randomization to identify a statistically significant association. There are also a number of studies that show that patients with epilepsy have an increased risk of obesity
[5]
Buro AW, Salinas-Miranda A, Marshall J, Gray HL, Kirby RS. Obesity and neurodevelopmental and mental health conditions among adolescents aged 10-17 years: The National Survey of Children's Health 2017-2018. J Paediatr Child Health. 2022 Oct; 58(10): 1753-1759.
Lee DH, Kim SY, Park JE, Jeon HJ, Park JH, Kawachi I. Nationwide trends in prevalence of underweight, overweight, and obesity among people with disabilities in South Korea from 2008 to 2017. Int J Obes (Lond). 2022 Mar; 46(3): 613-622.
Lee Y, Ahn Y, Cucullo L. Impact of Physical Activity and Medication Adherence on the Seizure Frequency and Quality of Life of Epileptic Patients: A Population Study in West Texas. Biomed Res Int. 2022 Jan 18; 2022: 4193664.
Ziegler SG, Kim J, Ehmsen JT, Vernon HJ. Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances. Dis Model Mech. 2023 Nov 1; 16(11): dmm050233.
It is of interest to identify metabolic and molecular genetic profile features that correlate with epilepsy in overweight children. It is particularly interesting to study the profile of organic acids in urine and genes involved in mitochondrial dynamics, which may potentially be associated with the pathology in question
[10]
Liu X, Li R, Chen S, Sang Y, Zhao J. Screening of inherited metabolic abnormalities in 56 children with intractable epilepsy. Exp Ther Med. 2016 Jul; 12(1): 135-140.
The aim of our work is to identify key metabolic and molecular genetic markers in obesity-associated epilepsy in children in order to develop a personalized approach to diagnosing this pathological condition.
2. Materials and Methods
The study included 24 patients aged 1 to 16 years (mean age 11.7 years). The gender distribution was 15 girls and 9 boys. Patients were recruited from the Psychoneurology Department No. 1 of the V. F. Voyno-Yasenetsky Scientific and Practical Center for Specialized Medical Care for Children, Moscow Health Department. The study was in line with the Declaration of Helsinki. The need for ethical approval was waived by Local ethics committee of V. F. Voyno-Yasenetsky Scientific and Practical Center for Specialized Medical Care for Children. Informed consent (consent to participate and consent for publication) was obtained from all participants or, if participants were under 18 years of age, from a parent and/or legal guardian. The distribution of patients by clinical diagnoses is presented in Table 1.
Table 1. Distribution of clinical diagnoses of patients in the study sample and comparison group.
Clinical diagnosis
Number of patients
Study sample (epilepsy + obesity)
Unrefined epilepsy with constitutional-exogenous obesity and mental retardation
1
Idiopathic (genetic) focal epilepsy with constitutional-exogenous obesity
2
Generalized idiopathic (genetic) epilepsy. S. Jeevons. Constitutional-exogenous obesity.
4
Focal (idiopathic) genetic epilepsy with constitutional-exogenous obesity
1
Focal epilepsy of unknown etiology with constitutional-exogenous obesity
1
Focal symptomatic (structural) epilepsy with constitutional-exogenous obesity
4
Focal idiopathic epilepsy with secondary generalized seizures and constitutional-exogenous obesity
1
GEFS+ syndrome (febrile seizures) with constitutional-exogenous obesity
1
Juvenile myoclonic epilepsy (Yantsa s.) with constitutional-exogenous obesity
1
Comparison group
Focal epilepsy of unknown etiology with autoimmune polyglandular syndrome
1
Metabolic syndrome with morbid obesity without epileptic activity
Mamedov I. S., Sukhorukov V. S., Zolkina I. V., Savina M. I., Nikolaeva E. A. Evaluation of mass spectrometric indicators for the differential diagnosis of inherited disorders of organic acid metabolism in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019; 64(1): 61-67. (In Russ.)
Targeted sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy and comparison group due to obesity was performed using the Helicon G50 (MGI Tech, China) genetic analyzer according to the standard paired-end read protocol.
To compare the mean values and differences in several urinary organic acid levels between the obese epilepsy group and the comparison group, the Student's t-test for unrelated populations with a significance threshold of P=0.05 and the Mann-Whitney test with the same significance threshold were calculated. Statistical calculations were performed using Statistica 10.0 (StatSoft, USA).
3. Results
The main deviations in the profile of organic acids in urine in patients with various epileptic syndromes against the background of obesity were identified in the following metabolic parameters (in 11 out of 16 patients): Krebs cycle markers, markers of mitochondrial dysfunction, detoxification markers, markers of bacterial dysbiosis.
Also, these patients showed a deviation in lactic acid levels outside the reference intervals. Elevated lactic acid levels may be associated with certain metabolic disorders in children with epilepsy due to obesity, such as lipoic acid deficiency. A deficiency results in the formation of lactic acid. In the comparison group (patients with metabolic syndrome without signs of epileptic activity) and patients with a normal body mass index and epilepsy, urinary lactic acid levels also exceeded the reference interval, but only at the lower limit. Statistical analysis using the T-test and Mann-Whitney test between the patient sample and the comparison group revealed significant differences (P < 0,05). Higher mean and median lactic acid levels were also demonstrated in the study sample of children compared to the comparison group (Table 2). Thus, significant metabolic disturbances were observed in the group of children with epilepsy and obesity.
Table 2. Mean and median values of lactic acid levels in the group of children with epilepsy against the background of obesity and in the comparison group.
Lactic acid level in urine, mmol/mol creatinine
Average value
Median value
Dispersion
Standard deviation
Patients
11,51
297,52
4,62
3,81
Comparison group
4,26
17,25
4,54
1,95
Most children with epilepsy due to obesity and children in the comparison group showed an increase in the level of 4-methyl-2-oxovaleric acid, which may be associated with a secondary disorder of amino acid metabolism in such patients associated with either metabolic syndrome or immune disorders (Table 3). Statistical analysis of this metabolic marker using the T-test revealed no significant differences between the group of children with epilepsy due to obesity and the comparison group (P>0,38), although it is known that a number of monogenic amino acid metabolism disorders can manifest as various epileptic syndromes
[13]
Avalos JC, Pellizza L, Aran M. Metabolic alterations associated with epileptic seizures detected by NMR spectroscopy. Sci Rep. 2025 Aug 8; 15(1): 29119.
. However, the association of multifactorial epileptic syndromes with such disorders has been poorly studied. Therefore, this issue requires further research.
Table 3. Mean and median values of 4-methyl-2-oxovaleric acid levels in the group of children with epilepsy due to obesity and in the comparison group.
In 3 patients with epilepsy against the background of obesity, an increase in the level of fumaric acid, which is a metabolic marker of the Krebs cycle, was detected, although a comparative analysis by Student's T-test of the mean value of this parameter in the group of patients with epilepsy and obesity (0,94 ± 0,24 mmol / mol creatinine) relative to the comparison group (0,27 ± 0,22 mmol / mol creatinine) revealed weak statistically significant differences (P> 0,053), although at present a severe monogenic pathology associated with a partial deficiency of the Krebs cycle enzyme fumarase (complete blockade of this enzyme is incompatible with life) has been described, which is manifested by a convulsive syndrome, microcephaly, a number of dysmorphic signs and leads to the death of patients in early childhood
[14]
Coman D, Kranc KR, Christodoulou J. Fumarate Hydratase Deficiency. 2006 Jul 5 [updated 2020 Apr 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
[14]
. In 6 patients, an excess of the upper limit of 2-ketoglutaric acid was detected. A comparative analysis of the mean level of this metabolite (36,6±9,91 mmol/mol creatinine) in the patient group versus the comparison group (11,9±1,87 mmol/mol creatinine) using Student's t-test showed a statistically significant difference between these samples (P<0,02). Statistical comparative analysis of the patient sample and the comparison group for this metabolite also showed a significant difference (P<0,05). A correlation analysis and ROC curve calculation were also performed using ketoglutaric acid data from both groups. The Pearson correlation coefficient was 0.85, indicating a strong positive correlation between ketoglutaric acid levels in the group of children with epilepsy due to obesity and in the comparison group. Studies have shown that some anticonvulsants, such as valproates, can block the reductive amination of α-ketoglutarate caused by the chemoconvulsant metabolite pentylenetetrazol
[15]
Rasgado LA, Reyes GC, Díaz FV. Modulation of brain glutamate dehydrogenase as a tool for controlling seizures. Acta Pharm. 2015 Dec; 65(4): 443-52.
. Thus, this Krebs cycle marker may play a role in the etiopathogenesis of epileptic activity in cerebral cortex neurons. However, the role of disturbances in this metabolic cycle in the etiopathogenesis of epileptic syndromes in obesity remains unclear. Therefore, the involvement of Krebs cycle components in the etiopathogenesis of metabolic forms of epilepsy requires further study.
Also, elevated levels of mitochondrial dysfunction markers were detected in a number of patients with epilepsy against a background of obesity: adipic acid in 5 patients, triethylmalonic acid in 1 patient, and methylsuccinic acid in 1 patient. In the comparison group, all studied markers of mitochondrial dysfunction were within the normal range. Statistical analysis of the mean value of adipic acid in the group of patients with epilepsy against a background of obesity (2,97±0,78 mmol/mol creatinine) versus the comparison group (1,87±0,39 mmol/mol creatinine) did not show statistically significant differences (P>0.22). The same analysis performed for ethylmalonic acid (2,79±0.42 mmol/mol creatinine versus 1,58 ±0,42 mmol/mol creatinine, respectively) showed a statistically significant difference (P<0,02). Currently, secondary mitochondrial dysfunction associated with epileptic activity of cortical neurons, leading to their hypoxia and potential death, has been identified, but the role of primary mitochondrial disorders in the genesis of epileptic seizures is still under debate.
[16]
Kelly A, Stanley CA. Disorders of glutamate metabolism. Ment Retard Dev Disabil Res Rev. 2001; 7(4): 287-95.
. However, the role of mitochondrial dysfunction and possible disturbances in mitochondrial dynamics in children with epileptic syndromes against the background of excess weight remains insufficiently studied and requires further metabolic and molecular genetic studies
[17]
Desguerre I, Hully M, Rio M, Nabbout R. Mitochondrial disorders and epilepsy. Rev Neurol (Paris). 2014 May; 170(5): 375-80.
Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Further studies on a larger sample are needed to determine the association of this genetic variant with obesity-associated epilepsy.
4. Discussion
Thus, in a group of patients with various epileptic syndromes against the background of obesity, the following disturbances in the profile of organic acids in urine were identified.
1) An increase in the level of 4-methyl-2-oxovaleric acid, which may be associated with a disorder of amino acid metabolism, since this metabolite serves as a marker of such disorders
[18]
Shin HE, Won CW, Kim M. Metabolomic profiles to explore biomarkers of severe sarcopenia in older men: A pilot study. Exp Gerontol. 2022 Oct 1; 167: 111924.
3) Patients with excess fumaric acid and 2-ketoglutaric acid demonstrate abnormalities in the Krebs cycle which may indicate hypoxic disorders
[20]
Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Fumarate hydratase deficiency. J Inherit Metab Dis. 1998 Jun; 21(4): 435-6.
4) In a group of patients with epilepsy and obesity, elevated urinary levels of several metabolic markers associated with mitochondrial dysfunction were observed. It is possible that mitochondrial dysfunction in epilepsy and obesity may be part of a single pathological process associated with impaired mitochondrial lipid peroxidation due to hypoxia
[21]
de Mello AH, Costa AB, Engel JDG, Rezin GT. Mitochondrial dysfunction in obesity. Life Sci. 2018 Jan 1; 192: 26-32.
. These changes may also be associated with disruption of mitochondrial dynamics.
As an additional therapy (along with the basic anticonvulsant treatment prescribed by a specialized pediatric neurologist-epileptologist), such patients are recommended to: 1) prescribe a ketogenic diet, as its effectiveness in drug-resistant epileptic syndromes has been proven, especially in children; 2) a diet rich in antioxidants, since the inclusion of foods containing vitamins C, E and carotenoids helps reduce oxidative stress; 3) use B vitamins: the addition of vitamins B1, B6 and B12 can help normalize the Krebs cycle; 4) prescribe prebiotics, the use of which can restore the intestinal microflora, which can be disrupted in patients with epilepsy due to obesity.
Thus, the study results confirm the importance of a personalized approach to the diagnosis and treatment of epilepsy in children with obesity. Particular attention should be paid to the study of mitochondrial function and metabolic disorders, as they significantly influence the clinical course of epilepsy. Further molecular genetic studies on larger samples are needed to identify associations between genetic variants and epilepsy in obesity.
Li YX, Guo W, Chen RX, Lv XR, Li Y. The relationships between obesity and epilepsy: A systematic review with meta-analysis. PLoS One. 2024 Aug 9; 19(8): e0306175.
Zhou K, Yang H, Chen R, Wang W, Qu Z. Causal relationship among obesity and body fat distribution and epilepsy subtypes. Front Neurol. 2022 Oct 26; 13: 984824.
Buro AW, Salinas-Miranda A, Marshall J, Gray HL, Kirby RS. Obesity and neurodevelopmental and mental health conditions among adolescents aged 10-17 years: The National Survey of Children's Health 2017-2018. J Paediatr Child Health. 2022 Oct; 58(10): 1753-1759.
Lee DH, Kim SY, Park JE, Jeon HJ, Park JH, Kawachi I. Nationwide trends in prevalence of underweight, overweight, and obesity among people with disabilities in South Korea from 2008 to 2017. Int J Obes (Lond). 2022 Mar; 46(3): 613-622.
Lee Y, Ahn Y, Cucullo L. Impact of Physical Activity and Medication Adherence on the Seizure Frequency and Quality of Life of Epileptic Patients: A Population Study in West Texas. Biomed Res Int. 2022 Jan 18; 2022: 4193664.
Ziegler SG, Kim J, Ehmsen JT, Vernon HJ. Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances. Dis Model Mech. 2023 Nov 1; 16(11): dmm050233.
Liu X, Li R, Chen S, Sang Y, Zhao J. Screening of inherited metabolic abnormalities in 56 children with intractable epilepsy. Exp Ther Med. 2016 Jul; 12(1): 135-140.
Mamedov I. S., Sukhorukov V. S., Zolkina I. V., Savina M. I., Nikolaeva E. A. Evaluation of mass spectrometric indicators for the differential diagnosis of inherited disorders of organic acid metabolism in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019; 64(1): 61-67. (In Russ.)
Shin HE, Won CW, Kim M. Metabolomic profiles to explore biomarkers of severe sarcopenia in older men: A pilot study. Exp Gerontol. 2022 Oct 1; 167: 111924.
Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Fumarate hydratase deficiency. J Inherit Metab Dis. 1998 Jun; 21(4): 435-6.
Alexandrovich, P. O., Salekh, M. I., Vyacheslavovna, Z. I., Gennadievna, K. E., Anatolyevich, T. P., et al. (2026). Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children. American Journal of Pediatrics, 12(2), 63-68. https://doi.org/10.11648/j.ajp.20261202.12
Alexandrovich, P. O.; Salekh, M. I.; Vyacheslavovna, Z. I.; Gennadievna, K. E.; Anatolyevich, T. P., et al. Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children. Am. J. Pediatr.2026, 12(2), 63-68. doi: 10.11648/j.ajp.20261202.12
@article{10.11648/j.ajp.20261202.12,
author = {Perevezentsev Oleg Alexandrovich and Mamedov Ilgar Salekh and Zolkina Irina Vyacheslavovna and Kulakova Ekaterina Gennadievna and Tatarinov Petr Anatolyevich and Krapivkin Alexey Igorevich},
title = {Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children},
journal = {American Journal of Pediatrics},
volume = {12},
number = {2},
pages = {63-68},
doi = {10.11648/j.ajp.20261202.12},
url = {https://doi.org/10.11648/j.ajp.20261202.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20261202.12},
abstract = {Background. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Research on the correlation between obesity and epilepsy in children is quite controversial. Identifying various metabolomic and molecular genetic markers of epilepsy is an extremely interesting task, which will allow the development of diagnostic algorithms for this pathological condition. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity. Methods. The study included 24 patients aged from 1 year to 17 years: 16 patients with with epilepsy due to obesity and 8 patients of the control. The gender distribution was 15 girls and 9 boys. The study of the profile of 60 organic acids in urine was carried out by HPLC-MS. Targeted sequencing of mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) was performed using the NGS method. Results. In the case-group the upper reference limit of a number of markers of the Krebs cycle, mitochondrial dysfunction, bacterial dysbiosis and lactic acid levels were exceeded. Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity.},
year = {2026}
}
TY - JOUR
T1 - Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children
AU - Perevezentsev Oleg Alexandrovich
AU - Mamedov Ilgar Salekh
AU - Zolkina Irina Vyacheslavovna
AU - Kulakova Ekaterina Gennadievna
AU - Tatarinov Petr Anatolyevich
AU - Krapivkin Alexey Igorevich
Y1 - 2026/05/30
PY - 2026
N1 - https://doi.org/10.11648/j.ajp.20261202.12
DO - 10.11648/j.ajp.20261202.12
T2 - American Journal of Pediatrics
JF - American Journal of Pediatrics
JO - American Journal of Pediatrics
SP - 63
EP - 68
PB - Science Publishing Group
SN - 2472-0909
UR - https://doi.org/10.11648/j.ajp.20261202.12
AB - Background. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Research on the correlation between obesity and epilepsy in children is quite controversial. Identifying various metabolomic and molecular genetic markers of epilepsy is an extremely interesting task, which will allow the development of diagnostic algorithms for this pathological condition. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity. Methods. The study included 24 patients aged from 1 year to 17 years: 16 patients with with epilepsy due to obesity and 8 patients of the control. The gender distribution was 15 girls and 9 boys. The study of the profile of 60 organic acids in urine was carried out by HPLC-MS. Targeted sequencing of mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) was performed using the NGS method. Results. In the case-group the upper reference limit of a number of markers of the Krebs cycle, mitochondrial dysfunction, bacterial dysbiosis and lactic acid levels were exceeded. Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity.
VL - 12
IS - 2
ER -
Department of Personalized and Translational Medicine, Rostov State Medical University, Rostov-on-Don, Russia; Laboratory of Clinical Diagnostic and Genetic Research, Scientific and Practical Center for Specialized Medical Care for Children, Moscow, Russia
Department of Hospital Epidemiology, Medical Parasitology and Tropical Diseases, Russian Medical Academy of Continuous Professional Education, Moscow, Russia
Alexandrovich, P. O., Salekh, M. I., Vyacheslavovna, Z. I., Gennadievna, K. E., Anatolyevich, T. P., et al. (2026). Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children. American Journal of Pediatrics, 12(2), 63-68. https://doi.org/10.11648/j.ajp.20261202.12
Alexandrovich, P. O.; Salekh, M. I.; Vyacheslavovna, Z. I.; Gennadievna, K. E.; Anatolyevich, T. P., et al. Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children. Am. J. Pediatr.2026, 12(2), 63-68. doi: 10.11648/j.ajp.20261202.12
@article{10.11648/j.ajp.20261202.12,
author = {Perevezentsev Oleg Alexandrovich and Mamedov Ilgar Salekh and Zolkina Irina Vyacheslavovna and Kulakova Ekaterina Gennadievna and Tatarinov Petr Anatolyevich and Krapivkin Alexey Igorevich},
title = {Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children},
journal = {American Journal of Pediatrics},
volume = {12},
number = {2},
pages = {63-68},
doi = {10.11648/j.ajp.20261202.12},
url = {https://doi.org/10.11648/j.ajp.20261202.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20261202.12},
abstract = {Background. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Research on the correlation between obesity and epilepsy in children is quite controversial. Identifying various metabolomic and molecular genetic markers of epilepsy is an extremely interesting task, which will allow the development of diagnostic algorithms for this pathological condition. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity. Methods. The study included 24 patients aged from 1 year to 17 years: 16 patients with with epilepsy due to obesity and 8 patients of the control. The gender distribution was 15 girls and 9 boys. The study of the profile of 60 organic acids in urine was carried out by HPLC-MS. Targeted sequencing of mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) was performed using the NGS method. Results. In the case-group the upper reference limit of a number of markers of the Krebs cycle, mitochondrial dysfunction, bacterial dysbiosis and lactic acid levels were exceeded. Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity.},
year = {2026}
}
TY - JOUR
T1 - Metabolomic and Molecular Genetic Markers of
Obesity-associated Epilepsy in Children
AU - Perevezentsev Oleg Alexandrovich
AU - Mamedov Ilgar Salekh
AU - Zolkina Irina Vyacheslavovna
AU - Kulakova Ekaterina Gennadievna
AU - Tatarinov Petr Anatolyevich
AU - Krapivkin Alexey Igorevich
Y1 - 2026/05/30
PY - 2026
N1 - https://doi.org/10.11648/j.ajp.20261202.12
DO - 10.11648/j.ajp.20261202.12
T2 - American Journal of Pediatrics
JF - American Journal of Pediatrics
JO - American Journal of Pediatrics
SP - 63
EP - 68
PB - Science Publishing Group
SN - 2472-0909
UR - https://doi.org/10.11648/j.ajp.20261202.12
AB - Background. Various epileptic syndromes can be comorbid with other pathologies, in particular, with excess weight. Research on the correlation between obesity and epilepsy in children is quite controversial. Identifying various metabolomic and molecular genetic markers of epilepsy is an extremely interesting task, which will allow the development of diagnostic algorithms for this pathological condition. The aim of the work is to identify the main metabolic and molecular genetic changes in epilepsy in children associated with obesity. Methods. The study included 24 patients aged from 1 year to 17 years: 16 patients with with epilepsy due to obesity and 8 patients of the control. The gender distribution was 15 girls and 9 boys. The study of the profile of 60 organic acids in urine was carried out by HPLC-MS. Targeted sequencing of mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) was performed using the NGS method. Results. In the case-group the upper reference limit of a number of markers of the Krebs cycle, mitochondrial dysfunction, bacterial dysbiosis and lactic acid levels were exceeded. Targeted NGS sequencing of four mitochondrial dynamics genes (MFN1, MFN2, OPA1, DRP1) of patients with epilepsy due to obesity and comparison group did not reveal pathological mutations in mitochondrial dynamics genes. However, 14 of the 16 patients with obesity-associated epilepsy were found to have the heterozygous OPA1 rs76426470 genetic variant (GA genotype), while all patients in the control group had the homozygous variant (GG genotype). Conclusion. Thus, we have identified a number of metabolic markers associated with epilepsy in children against the background of obesity.
VL - 12
IS - 2
ER -
,
Mamedov Ilgar Salekh
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