Features of the genetic profile in children with dorsopathy complicated by dorsalgia in conditions of contamination of biological media with lead

Introduction. The high prevalence of pathologies of the musculoskeletal system in children, in particular dorsopathies complicated by pain syndrome (dorsalgia), is one of the leading health problems. Environmental pollution with heavy metals makes a significant contribution to the formation of pathology. Lead is the most common and dangerous of industrial toxicants, it has a negative effect on the immature bone and nervous system in children, pathologies in which, left without due attention, affect the quality of life and performance in the future.

The purpose of the study. Evaluation of the features of single nucleotide substitutions of the methionine synthase (MTR) gene and dopamine receptor (DRD2) in schoolchildren with dorsopathy complicated by dorsalgia under conditions of contamination of the biological medium with lead.

Materials and methods. The study involved 7–11 years seventy eight schoolchildren with dorsopathy living in an industrially developed region. The observation group (n = 26) differed from the comparison group (n = 52) in the presence of dorsalgia. The blood lead content was studied by inductively coupled plasma mass spectrometry. Polymorphic variants of the DRD2 (rs1800497) and MTR (rs1805087) genes were identified by real-time PCR.

Results. Schoolchildren with dorsopathy and dorsalgia are characterized by an increased blood lead content relative to the background level and values of the comparison group, an increased frequency of the T-allele of the dopamine receptor gene DRD2 (rs1800497), G-allele and AG genotype of the methionine synthase gene MTR (rs1805087), and are also accompanied by excessive levels of dopamine and ionized calcium.

Research limitations. Using a small sample size.

Conclusion. In children with dorsopathy and dorsalgia syndrome features of polymorphism of candidate genes DRD2 (rs1800497) and MTR (rs1805087) associated with impaired detoxification processes, integrity and density of bone tissue cause the risk (RR = 1.73–1.77; 95% CI: 1.23–2.53) of pathology of the musculoskeletal system, accompanied by contamination of biological media with lead, changes in the indices of homeostasis that modify the development of this pathology.

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. 11 of 14/03/2023). All patients were informed about the purpose of the study, and voluntary informed consent was obtained.

Contribution of the authors:
Otavina E.A. — the collection and processing of material, statistical processing, writing the text;
Dolgikh O.V. — concept, study design, editing, responsibility for the integrity of all parts of the article.
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.

Acknowledgment. The study had no sponsorship.

Received: April 4, 2024 / Accepted: October 3, 2024 / Published: December 28, 2024