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International journal of Immunopathology, allergology, infectology.

Mutations of a gene of GJB2 and the level of calcium in plasma of peripheral blood at an erythroderma

Sidikov A.A., Zaslavsky D.V., Emelyanov A.K., Chuprov I.N., Guliev M.O., Grekova E.V., Nasyrov R.A.

1 St.Petersburg State Pediatric Medical University
2 I.P. Pavlov First St. Petersburg State Medical University
3 I.I. Mechnikov North-Western State Medical University
4 Северо-Западный государственный медицинский университет им. И.И. Мечникова
5 Kabardino-Balkarian state university of H.M. Berbekov,
6 I.M. Sechenov First Moscow State Medical University

The aim of the study was to search for mutations in the coding region of the GJB2 gene and to assess the level of Ca2+ ions in peripheral blood plasma among patients with various forms of erythroderma. A prospective study was conducted at 56 patients with various types of erythroderma: psoriatic erythroderma, erythrodermic form of atopic eczema, erythroderma caused by medication, erythrodermic form of fungal mycosis. The decrease in the level of Ca2+ in all groups of patients was detected.
Mutations of M34T, V37I, R127H in heterozygous state were revealed in three separate cases in patients with psoriatic erythroderma. The frequency of these mutations was 16.7 % among patients with psoriatic erythroderma and 8.8 % among all patients with erythroderma, with the frequency of each mutation being 5.6% versus 2.8%, respectively. No genetic changes in the coding region of the GJB2 gene were found in patients with other forms of erythroderma. No statistically significant differences in the level of Ca2+ were found between the group of patients with mutations in the GJB2 gene with psoriatic erythroderma and other patients of the same group (p=0.43). The gene mutation of connexin 26 – M34T, V37I, R127H (GJB2) may appear fundamental in the development of psoriatic erythroderma. The detected mutations contribute to the introduction of intercellular calcium into the cell, change in cellular homeostasis and release of ATP.

Keywords

Connexin 26, GJB2 gene mutation, M34T, V37I, R127H, calcium, erythroderma, psoriatic erythroderma, disturbance of skin barrier.

Reference

Sidikov A.A., Zaslavsky D.V., Emelyanov A.K., Chuprov I.N., Guliev M.O., Grekova E.V., Nasyrov R.A. Immunopathology, allergology, infectology 2018; 2:65-77

DOI

10.14427/jipai.2018.2.65