The value of molecular genetics and biochemical markers in the choice of treatment for patients with congenital spinal deformities

Research carried out in the Republic of Belarus shows that congenital deformities of the spine of various origins account for 2.5–7 % of all identified cases. Currently, the main assessment of the type of congenital malformation of the spine and the size of the main deformity arch is the radiation method of investigation. Monitoring the state of the spine in dynamics using this method during the growth and development of a child in order to predict the nature of the course of congenital spinal deformity takes a long time, which sometimes leads to irreversible negative consequences.

AIM OF THE STUDY: development of criteria for early surgery in the presence of severe congenital deformities of the spine in children based on the study of molecular genetics and biochemical markers.

MATERIALS AND METHODS. The studies were carried out in 52 patients with congenital spinal deformities. In this group, due to the progression of the disease, 24 children were operated on, which is 45 %. The trace element composition of blood (Zn, P, Ca, Cu), as well as the content of Se, Ag, Pb, Cd, was studied in 52 patients. As part of a genetic study in the same 52 patients, nucleated cells are isolated from the peripheral blood for subsequent DNA extraction. To determine polymorphisms of detoxification genes GSTT1, GSTM, GSTP1 (lle105Val), GSTP1 (Ala114Val).

CONCLUSION. The main molecular genetic markers in congenital spinal deformities are polymorphisms of detoxification genes, as well as their relationship with blood biochemical parameters and heavy metals in biological substrates. If there are at least two values in each of the conducted biochemical studies that are on the border of the reference or exceed them, and when carrying out a genetic study, the presence of one mutation in one of the detoxification genes, or its absence, is regarded as an aggressive course that needs surgical treatment. The question of the need for surgical treatment is raised taking into account clinical data.

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