Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.

Herewith, we provide novel original data about the prevalence of FCN3 rs532781899 and MASP2 rs72550870 variants among the newborns of aboriginal Siberian Arctic populations (Nenets and Dolgan-Nganasans) and Russians of East Siberia. This novel data has been analysed along with the genetic data about other proteins of the lectin pathway of the complement system (mannose-binding lectin and ficolin-2) obtained earlier. A total of 926 specimens of dried blood spots of the newborns were genotyped.

Chronic optogenetic stimulation of Bergman glia leads to dysfunction of EAAT1 and Purkinje cell death, mimicking the events caused by expression of pathogenic ataxin-1.

Bergmann glia (BG) are highly specialized radial astrocytes of the cerebellar cortex, which play a key role in the uptake of synaptic glutamate via the excitatory amino acid transporter EAAT1. Multiple lines of evidence suggest that in cerebellar neurodegenerative diseases reactive BG has a negative impact on neuronal function and survival through compromised EAAT activity. A family of such diseases are those caused by expansion of CAG repeats in genes of the ataxin family, resulting in spinocerebellar ataxias (SCA).

Mannose-binding lectin gene polymorphisms in the East Siberia and Russian Arctic populations.

Mannose-binding lectin (MBL) encoded by MBL2 gene is a protein with the ability to form carbohydrate complexes with microbial wall promoting their subsequent elimination. Genetically determined levels of MBL can modify the risk and clinical characteristics of many infectious diseases. The frequency of MBL2 genotypes exhibits significant population differences.

Extracellular S100β Disrupts Bergman Glia Morphology and Synaptic Transmission in Cerebellar Purkinje Cells.

Astrogliosis is a pathological process that affects the density, morphology, and function of astrocytes. It is a common feature of brain trauma, autoimmune diseases, and neurodegeneration including spinocerebellar ataxia type 1 (SCA1), a poorly understood neurodegenerative disease. S100β is a Ca binding protein.

The prevalence of the variants of the L-ficolin gene (FCN2) in the arctic populations of East Siberia.

L-ficolin encoded by FCN2 gene is a crucial factor of defence against infection in humans. We studied the prevalence of the two common variants (rs17549193 and rs7851696) in aboriginal and alien populations of the Taymyr-Dolgan-Nenets region of Krasnoyarskiy Kray, East Siberia, Russia (Nenets, Dolgans, Nganasans, Russians). We found a decreased prevalence of the rs17549193*T allele in all aboriginal populations as compared to Russians.

Immunological parameters and gene polymorphisms (C-590T IL4, C-597A IL10) in severe bronchial asthma in children from the Krasnoyarsk region, West Siberia.

Background: Bronchial asthma is a common disease caused by interplay between multiple determinants, including genetic and immune variations.

Objective: To investigate the main indices of humoral and cellular branches of immunity, features of cytokine regulation and cytokine genes in children with atopic bronchial asthma (BA) with different levels of disease control.

Design: Fifty children with controlled BA (CBA) and 50 with uncontrolled BA (UBA) were analyzed.

Association of IL2, TNFA, IL4 and IL10 Promoter Gene Polymorphisms with the Rate of Progression of the HIV Infection.

The rate of transition from one stage to another during the course of HIV infection is characterized by changes in the cytokine network balance. The alterations in the cytokine network balance during HIV infection depend on the individual profile of cytokine production predetermined by the functioning of the genes encoding the immunomodulators. The purpose of this research is to study the distribution in the frequency of allelic variants of the promoter regions of the genes encoding pro-inflammatory (T-330G IL2 and G-308A TNFA) and anti-inflammatory (C-590T IL4 and C-597A IL10) cytokines among healthy individuals of European origin and in HIV-infected patients with various rates of HIV progression (fast and slow).

Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.

The association of particular allelic variants of genes coding proteins, such as transporter associated with processing (TAP) and heat shock protein (HSP), involved in endocellular processing of endogenous antigens, with synovium pathology accompanied with urogenital infection was observed. The particular alleles of TAP1 and TAP2 genes appeared to be the factor of predisposition or resistance for Chlamidia trachomatis but not for Mycoplasma hominis. At the same time, the relative risk for C.