Vol 59, No 10 (2023)

Human predisposition to neurological diseases such as schizophrenia, Alzheimer’s, Parkinson’s and other neuropathologies is associated with genetic and environmental factors. One of the promising directions in the area of molecular neurosciences is the study of the role of immunogenetic mechanisms in different types of pathological processes in brain. This review explores the role of complex histocompatibility genes in the pathogenesis of schizophrenia, evaluating changes in the immune repertoire of T- and B-cell receptors in neuroinflammation.

Reflex epilepsy is a relatively rare form of epilepsy, occurring only in five percent of all cases of this disease. The genetic factors of reflex epilepsy are diverse and, in general, poorly studied. This review examines the main results obtained in recent years in the study of molecular genetic factors of reflex epilepsy, including new data on the mechanisms of genetic regulation in reflex epilepsy caused by triggers such as audio and video stimulation, food consumption, reading, contact with water and hypoxia. The results obtained in studies on animal models and patients using next-generation sequencing technology are presented.

This article presents the results of research on the identification of informative DNA marker systems, providing reliable control of the resistance gene to fusarium wilt Foc1 presence in white cabbage breeding material. At the beginning of the work 14 molecular markers, taken from VegMarks database and literature sources were tested on isogenic white cabbage lines with contrasting resistance to fusarium wilt (resistant line DT-46 and susceptible line Kb1P). InDel-marker M10 and SSR-markers Frg13 and O110-D01 have been ascertained to show polymorphism between white cabbage forms with contrasting resistance to fusarium wilt. Also PCR-analysis of segregating F₂-population plants of hybrid combination DT-46 × Kb1P using these markers and phytopathology testing have been conducted. As a result of statistical analysis of segregation it has been found that SSR-marker Ol10-D01 only is cosegregated with the trait of resistance to fusarium wilt as expected segregation of F₂-plants by genotype 1 : 2 : 1 according to Mendel’s law, the least recombination frequency between the resistance gene Foc1 and the marker (1.6%) has just been observed by this locus only and highly polymorphic (PIC = 0.51).

Genetic methods based on the study of the variability of mitochondrial (CO1) and nuclear (microsatellites) DNA were used to study the processes of morphogenesis in the genus Eleginus. The revealed level of genetic differentiation characterizes the Pacific Saffron cod (Eleginus gracilis) and Navaga (Eleginus nawaga) as independent species that diverged in a relatively recent period at the boundary of the Pliocene and Pleistocene. The White Sea Navaga’s populations were by microsatellites markers differed from the Navaga inhabiting the basins of the Kara and the Barents seas. At the same time, it is assumed that the Kara-Barents Sea region could act as a “glacial refugium”, which ensured the post-glacial settlement of Navaga, including in the “watered” White Sea depression. Phylogenetic analysis based on CO1 haplotypes diversity reveals demand of possible reorganization in order Gadiformes, including Eleginus in an independent subfamily – sister in relation to the subfamilies Gadinae, Lotinae, Merlucciinae. The prospects of improving genetic methodological approaches in the framework of the development of research on Saffron cod are noted.

The aim of the study was to study the association of polymorphic variants rs2295080 and rs1883965 of the MTOR gene with the risk of developing pulmonary sarcoidosis. The study included 253 people (122 patients diagnosed with morphologically verified sarcoidosis with lung involvement (average age – 41.00 ± 12.56 years) and 131 healthy people (control group) (average age – 44.00 ± 14.23). The distribution of alleles and genotypes of polymorphic markers rs2295080 and rs1883965 of the MTOR gene was analyzed in the study groups. There was a statistically significant increase in the level of mRNA expression of the MTOR gene in PBL of patients with pulmonary sarcoidosis compared with the control group (p = 0.007). A decrease in the number of transcripts of this gene was noted in patients receiving therapy compared with patients without therapy (p = = 0.025). There were no statistically significant differences in the distribution of allele and genotype frequencies for polymorphic markers rs2295080 and rs1883965 of the MTOR gene in the group of patients with pulmonary sarcoidosis and in the control group: (χ² = 0.196, d.f. = 1, p = 0.658 and χ² = 0.637, d.f. = 2, p = = 0.728) and (χ² = 0.034, d.f. = 1, p = 0.855 and χ² = 0.051, d.f. = 2, p = 0.975) respectively. Conclusion: аn increased level of expression of the MTOR gene in peripheral blood leukocytes of patients with pulmonary sarcoidosis may indicate the involvement of this gene in the pathogenesis of this disease. Polymorphic markers rs2295080 and rs1883965 of the MTOR gene are not associated with the risk of developing pulmonary sarcoidosis. Probably, an increase in the expression level of the MTOR gene in patients with pulmonary sarcoidosis is due to the development of inflammation.

Over fifteen years, genome-wide association studies (GWAS) have identified several million polymorphic risk markers for schizophrenia, significantly advancing our understanding of the genetic architecture of schizophrenia. The aim of this study was to study genetic risk factors for the development of schizophrenia in a genome-wide association analysis in Russians, Tatars, and Bashkirs from the Republic of Bashkortostan. The studied sample consisted of 816 patients with paranoid schizophrenia and 989 healthy individuals. GWAS genotyping of DNA samples was carried out on the PsychChip, which included 610 000 single nucleotide polymorphic variants (SNPs). As a result of the study, for the first time, an association of SNPs rs73254185 (4p15.2) and rs587778384 of the GNAS gene (20q13.31) with the risk of paranoid schizophrenia in individuals of different ethnicity, Russians, Tatars and Bashkirs living in the Republic of Bashkortostan, was established, which probably may indicate involvement of PI4K2B and GNAS genes localized in these chromosomal regions in the pathogenesis of schizophrenia.