Lynch syndrome is a form of hereditary colorectal cancer and cancer of other organs and is caused by germline mutations in DNA mismatch repair (MMR) genes. This review presents clinical and genetic data of patients with Lynch syndrome and current status of diagnostic and kinds of treatment in this group of patients.

The study of the population and the medical genetic counseling of patients with non-syndromic sensorineural hearing loss (NSHL) in Cherkessk city and eight districts (Ust-Dzhegutinskaya, Karachaevsky, Malokarachaevsky, Abazinsky, Prikubansky, Habezsky and Nogaisky) of Karachay-Cherkess Republic (KCHR) were performed. 197 patients with NSHL were identified. 127 patients with NSHL held DNA-diagnostics of coding exon GJB2 gene. The frequency of all pathological mutations GJB2 gene was 35.04% (in 53.00% of Russian patients, in 8.11% of Karachai, 50% of Circassians, in 25% of Abaza). Population frequencies c.35delG mutations in GJB2 gene among 507 healthy individuals of the three ethnic groups (Russian, Karachay, Circassian) were determined.

Obesity is considered to be a rapidly growing health problem worldwide. The factors that regulate body fat content and distribution are not fully understood. Our study aimed to investigate whether the Pro12Ala (rs1801282) polymorphism of the PPARG gene may influence on PPARG expression in visceral adipose tissue in fertile women in Russia. The study included 27 women without type 2 diabetes mellitus and cardiovascular dysfunction (mean age 43.00 (30.00-49.00), BMI 28.73 (18.13-56.18) kg/m²). Genotyping of the Pro12Ala PPARG polymorphisms were determined by PCR-RFLP assay. PPARG expression were estimated by RT-PCR with TaqMan probes. Our results demonstrated that mRNA PPARG level was significantly lower in subjects with the 12Ala allele (AlaAla+AlaPro) than in ProPro genotype carriers (p = 0,029). In conclusion, we demonstrate that the Pro12Ala PPARG polymorphism may influence to the observed variability in PPARG expression in visceral adipose tissue and thereby contribute to the pathogenesis of abdominal obesity in fertile women.

Mitochondrial diseases are characterized by considerable diversity of clinical presentations and genetic heterogeneity and mostly manifest in neonatal period or in early childhood. Clinical picture of these patients reveales a variety of neurological and somatic symptoms. Mutations in mitochondrial DNA (mtDNA) and in nuclear genes that control oxidative phosphorylation processes can cause mitochondrial diseases. The article provides the literature analysis and description of a 5 new patients with mutations in the SCO2 gene identified by a target sequencing of 62 nuclear mitochondrial genes and by retrospective analysis of 202 patients with a clinical diagnosis of mitochondrial myopathy / Leigh syndrome. It has been shown that SCO2 gene mutations present the second frequent cause of infantile mitochondrial encephalomyopathies after SURF1 gene mutations.

The aim of our study was to investigate the relationship between GSS A/G (rs1801310) gene polymorphism and the development of UM in the population of Central Russia. 336 patients with UM and 205 healthy women were enrolled in this study. Genotyping of A/G gene polymorphism was performed through TaqMan assay. Allele G was associated with increased risk of UM development (OR = 1,30; 95% Cl = 1,01-1,67; p = 0,04). Meanwhile we observed the protective effect of AA genotype on the development of UM (OR = 0,60; 95% Cl = 0,39-0,94; p = 0,03).

The results of associations study of NO-synthase and arginase genes and asthma of children living in Moscow are presented. 207 children and adolescents are examined (107 with asthma and 100 healthy controls). Analysis of polymorphism of NOS1 , NOS2 , NOS3 , ARG1, ARG2 genes was carried out. The association of asthma and polymorphic variants CCTTTn of NOS2A gene was established in the total group and in the groups of boys and girls. Gender differences were revealed. Significant gene-gene interactions of polymorphic loci of the studied genes NO-synthase and arginase in the asthma development were determined. Associations of combinations of NOS2А (CCTTT)_n*SL x ARG2 (rs3742879)*AA genotypes with the increased risk of asthma development in girls has been revealed.