MOLECULAR GENETIC AND BIOCHEMICAL MARKERS OF CONGENITAL SPINAL DEFORMITIES
AIM OF THE STUDY - substantiation of molecular genetic markers of the study to determine the severity of the course of congenital spinal deformities and address issues related to the choice of treatment tactics for this category of patients. MATERIALS AND METHODS. Based on the analysis of the clinical and radiological features of various types of congenital malformations in 50 patients, a molecular genetic study was conducted to determine the detoxification gene polymorphisms GSTT1, GSTM, GSTP1 (lle105Val), GSTP1 (Ala114Val) and gene mutations responsible for the growth rate and structure of the vertebrae and intervertebral discs - genes NOXD, RUNX2, CHST3, DLL3, MESP2, LFNG, HES7, and also studied the biochemical parameters of blood: Zn, P, Ca, Cu, Se, Ag and heavy metals (Pb, Cd) in biological substrates (blood serum). RESULTS. In 23 operated children, a genetic study revealed the absence of a detoxification gene in 20 cases, which coincided with changes in the biochemical composition of blood in at least two reference values of the elements. If in each biochemical study there are at least two values located at the border or outside the reference, and when conducting a genetic study, the presence of “mutant” alleles in one of the detoxification genes in the same cases, or their complete absence, we can evaluate the course of the disease as aggressive, requiring surgical treatment. The question of the need for surgical treatment should be posed taking into account clinical data. In the presence of mutations in the genes responsible for the growth rate and structure of the vertebrae and intervertebral discs - the RUNX2, CHST3, DLL3, MESP2, LFNG, HES7, HOXA11, HOXD13 genes, the attitude to the indications of emergency surgery for such a patient should be as careful as possible, since the above genes are responsible for the development of connective tissue, which may entail the presence of another congenital pathology, not demonstrative, but sharply increasing operational risks. CONCLUSION. 1. The main molecular genetic markers for congenital spinal deformity are detoxification gene polymorphisms, as well as their relationship with blood biochemical parameters and heavy metals in biological substrates. 2. The accuracy of the method is 86.9%. It can be used in deciding on the choice of treatment for congenital spinal deformities.