Molecular genetic theories concerning the mechanism of vitiligo pathogenesis

Molecular genetic theories concerning the mechanism of vitiligo pathogenesis

V.V. Petunina, O.P. Parshina, E.R. Rakhimova, B.V. Shilov

Pirogov Russian National Research Medical University, Moscow

Vitiligo is one of the diseases with an impact on the quality of life due to a certain stigmatization of such patients. Currently, there is no consensus on the underlying disease causes, including the contribution of the genetic factor to its occurrence. The issue of the vitiligo genesis began to attract attention especially during the development of technological capabilities.

The article presents an analysis of publications covering the study and identification of genes that cause susceptibility to this disease. It has been shown that vitiligo is a polygenic disease. The genes that determine its development can be conditionally divided into three large groups: group 1 — those responsible for the melanin synthesis and accumulation, group 2 — associated with apoptosis and/or metabolism of reactive oxygen species, and group 3 — associated with the immune system. There is reason to associate the vitiligo development with an increase in the expression of melanogenesis genes (possibly secondary and compensatory), a decrease in the expression of kinase signaling genes, as well as signaling molecules of IFN-γ-mediated immune response.

Keywords: vitiligo, pathogenesis, genetic markers, melanin synthesis, melanogenesis genes, TYRP1, TYRP2, DCT, POMC, CD8+, PTPN22, NALP1, RORyt.

For citation: Petunina V.V., Parshina O.P., Rakhimova E.R., Shilov B.V. Molecular genetic theories concerning the mechanism of vitiligo pathogenesis. RMJ. 2024;7:41–44.