Features of indices of neurotransmitter regulation in schoolchildren with disorders of the autonomic nervous system under conditions of polymorphism of the ApoE Cys130Arg and SIRT1 C>G genes and bioexposure to heavy metals

Introduction. An increasing chemical pollution of the environment with heavy metals (HMs) makes a significant contribution to the spread of disorders of the autonomic nervous system (ANS). In modern diagnostics and prevention of health disorders associated with the quality of the environment, a promising direction is the identification of polymorphisms of candidate genes associated with the risk of developing ANS diseases.

The aim of the study. To evaluate the characteristics of neurotransmitter regulation in adolescent schoolchildren with ANS disorders under conditions of polymorphic variants of the ApoE, SIRT1 genes and blood contamination with cadmium, lead, and arsenic. 

Materials and methods. Six hundred thirty three schoolchildren living in conditions of low-level aerogenic HM exposure (up to 1 average annual MAC) were examined, 330 of them with ANS disorders (G90.8–G90.9) and 303 conditionally healthy (comparison group). Polymorphisms of the ApoE (rs429358), SIRT1 (rs7069102) genes were evaluated by PCR, the level of contaminants in the blood by inductively coupled plasma mass spectrometry, and neuroimmunogenesis parameters by ELISA.

Results. Schoolchildren with ANS pathology are characterized by an increased blood content of cadmium, lead, and arsenic, an elevation of the frequency of the C-allele and TC-genotype of the ApoE gene (rs429358), as well as the C-allele of the SIRT1 gene (rs7069102) (RR=1.23–1.83) relative to the comparison group. There was a significant increase in the expression of neuroimmunomediators acetylcholine and adrenaline (1.2 times) and a decreased expression of leptin and interleukin-17A (1.4–1.5 times) in relation to the indicators in healthy children. 

Limitations. The limited range of effect indicators used in this study.

Conclusion. The established polymorphism features of ApoE (rs429358), SIRT1 (rs7069102) genes in children reflect the risk of ANS disorders in conditions of low-level aerogenic HMs exposure. Indicators of neurotransmitter regulation, the C-allele of the ApoE (rs429358) and SIRT1 (rs7069102) genes are recommended to be used as indicators for the prevention and reduction of the risk of developing ANS diseases in adolescent schoolchildren under conditions of excessive bioexposure to cadmium, lead, and arsenic.

Compliance with ethical standards. The study was approved by the ethics committee of the Federal Scientific Center for Medical and Preventive Health Risk Management Technologies (Protocol No.14 of 14/03/2023). All participants and their legal representatives gave informed voluntary written consent to participate in the study.

Contribution:
Zaitseva N.V. — research design, editing;
Otavina E.A. — collection and processing of material, statistical processing, writing and editing of text;
Dolgikh O.V. — concept, research design, editing;
Kazakova O.A. — collection and processing of material, statistical processing, editing.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

Conflict of interest. The authors declare no conflict of interest.

Funding. The study had no sponsorship.

Received: September 4, 2025 / Accepted: October 15, 2025 / Published: December 19, 2025

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