09/07/2024


The GCK gene encodes glucokinase (hexokinase 4), which catalyzes the first step in a large number of glucose metabolic pathways such as glycolysis. Mutations in this gene are the cause of MODY2. The illness is characterized by an insignificant increase in the fasting glucose level, is a well-controlled disease without medication, and has a low prevalence of micro- and macrovascular complications of diabetes. The presented case of MODY2 reveals the clinical significance of a mutation in the splice site of the GCK gene. When nonclassical diabetes mellitus is being diagnosed in young people and pregnant women, genetic testing is needed to verify the diagnosis and to select the optimal treatment method. Key words human; maturity onset diabetes of the young; MODY2; glucokinase gene; next-generation sequencing; genetic analysis; bioinformatics.The TRPM8 gene encodes the ion channel, which is a cold receptor in afferent neurons of the mammalian somatosensory system. We studied the frequency of haplotype distribution from six SNPs in the TRPM8 gene in Eurasian human populations, including Russians, Kazakhs and Chukchi. Four of the six SNPs are located in exon 7 (rs13004520, rs28901637, rs11562975, rs17868387), rs7593557 is in exon 11. These exons encode parts of the N-terminus, which is necessary for channel functioning in the plasma membrane of neurons. The rs11563071 is in exon 23 encoding part of the C-terminus. The primary difference in population distribution of haplotypes determines the SNP from exon 11 which leads to Ser419Asn substitution in protein. The most pronounced differences in the patterns of diversity and frequencies of haplotypes were observed between Chukchi and Russians. The frequency of major H1 haplotype encompassing the 419Ser gene variant differs in examined populations; 0.738 (Russians), 0.507 (Kazakhs) and 0.337 (Chukchi), p less then 0.001. The TRPM8 gene variants encoding 419Asn and carrying the minor alleles of rs28901637 (P249P) and rs11562975 (L250L) in exon 7 are characteristic of Asian populations. The frequency of all 419Asn variants in Chukchi is comparable to that in Africans, however, the minor allele frequencies of rs28901637, rs11562975 in Africans is low. Apparently in the process of human colonization of Eurasia, minor alleles of these SNPs diverged depending on rs7593557 structure in exon 11. We analyzed sequences of five TRPM8 mRNA isoforms extracted by researchers from different tissues. Sequence analysis demonstrates that they are transcribed from major H1 variant of the TRPM8 gene but contain different translation start codons, which are generated by alternative splicing from pro-mRNA.The article reports an original method for producing vitamin D3-binding protein (DBP) and its conversion into macrophage-activating factor GcMAF-RF. According to an original protocol, DBPs were obtained from human blood plasma using affinity chromatography, purified and modified to GcMAF-RF using cytoimmobilized glycosidases (beta-galactosidase and neuraminidase). The presence of the polypeptide obtained in the Gc group of blood plasma globulins was confirmed by Western blot using specific antibodies. The molecular properties of this polypeptide put it in correspondence with the GcMAF protein described in the literature, which is undergoing clinical trials in the USA, Britain, Israel and Japan (at Saisei Mirai; Reno Integrative Medical Center; Immuno Biotech Ltd; Efranat; and Catalytic Longevity). The biological activity of the GcMAF-RF preparation was detected by the induction of phagocytic activity of macrophages and their ability to produce nitrogen monoxide (NO) in vitro. The phagocytic activity of macropeatment, and, in addition, it can be used in the treatment of a number of neurodegenerative pathologies.Nearly all lethal viral outbreaks in the past two decades were caused by newly emerging viruses. Viruses are often studied by electron microscopy (EM), which provides new high-resolution data on the structure of viral particles relevant to both fundamental virology and practical pharmaceutical nanobiotechnology. Electron microscopy is also applied to ecological studies to detect viruses in the environment, to analysis of technological processes in the production of vaccines and other biotechnological components, and to diagnostics. Despite the advances in more sensitive methods, electron microscopy is still in active use for diagnostics. The main advantage of EM is the lack of specificity to any group of viruses, which allows working with unknown materials. However, the main limitation of the method is the relatively high detection limit (107 particles/mL), requiring viral material to be concentrated. There is no most effective universal method to concentrate viruses. Various combinations of methods and approaches are used depending on the virus and the goal. A modern virus concentration protocol involves precipitation, centrifugation, filtration, and chromatography. Here we describe the main concentrating techniques exemplified for different viruses. Effective elution techniques are required to disrupt the bonds between filter media and viruses in order to increase recovery. The paper reviews studies on unique traps, magnetic beads, and composite polyaniline and carbon nanotubes, including those of changeable size to concentrate viral particles. It also describes centrifugal concentrators to concentrate viruses on a polyethersulfone membrane. Our review suggests that the method to concentrate viruses and other nanoparticles should be chosen with regard to objectives of the study and the equipment status of the laboratory.The multitude of existing methods for assessing the phenotypic stability of plants makes breeders be faced with the problem of choosing an appropriate variant. The purpose of this study was to compare different methods of analyzing the genotype × environment interaction and, on their basis, assess the stability of the yield of 7 varieties of winter wheat. The article compares 17 stability statistics by applying them to data obtained from agrotechnical experiments carried in 2009-2011 for evaluating the grain yield of 7 varieties of winter common wheat of Siberian selection (Novosibirskaya 32, Novosibirskaya 40, Novosibirskaya 51, Novosibirskaya 3, Novosibirskaya 2, Obskaya winter, Omskaya 6). Analysis of variance revealed a significant ( p less then 0.001) genotype × environment interaction in the experiments, which indicates a different reaction of genotypes to changes in environmental conditions. Genotypes were ranked according to the level of stability. Based on the analysis of the rank correlation matrix, the stability statistics were categorized in five groups. Recommendations were made on which group of methods to use depending on the objectives of the study. In the case when the goal of breeding research is the selection of the most biologically stable varieties with the minimum variance across a range of environments, one should use the methods of the static concept. If it is necessary to choose a genotype with a predictable reaction to changes of environmental conditions, corresponding to the calculated level or forecast, the regression approach is the most appropriate. The stability statistics generally identified Novosibirskaya 32 as the most stable variety from a biological point of view. The regression approach showed that Novosibirskaya 3 was the genotype with the smallest deviation from mean yield in all environments, while methods accessing the contribution of each genotype to the genotype × environment interaction defined Novosibirskaya 51 as the most stable variety.Remote sensing using hyperspectral cameras is an important technology for non-destructive monitoring of plant pigment composition, which is closely related to their physiological state or infection with pathogens. The paper presents the experience of using Specim IQ, a mobile hyperspectral camera, to study common root rot (the pathogen is the fungus Bipolaris sorokiniana Shoem.) affecting the seedlings of four wheat varieties and to analyze the pulp of potato tubers of 82 lines and varieties. Spectral characteristics were obtained for seedlings and the most informative spectral features (indices) for root rot detection were determined based on the data obtained. https://www.selleckchem.com/products/bufalin.html Seedlings of control variants in the visible part of the spectrum show an increase in reflectance with a small peak in the green area (about 550 nm), then a decrease due to light absorption by plant pigments with an extremum at a wavelength of about 680 nm. Analysis of histograms of vegetation index values demonstrated that the TVI and MCARI indices are the most informative for detecting the pathogen on wheat seedlings according to hyperspectral survey data. For potato samples, regions of the spectrum were found that correspond to local maxima and minima of reflection. It was shown that the spectra of potato varieties have the greatest differences within wavelength ranges of 900-1000 nm and 400-450 nm, which in the former case may be associated with the level of water content, and in the latter, with the formation of melanin in the tubers. It was shown that according to the characteristics of the spectrum, the samples studied are divided into three groups, each characterized by increased or reduced intensity levels for the specified parts of the spectrum. In addition, minima in the reflection spectra corresponding to chlorophyll a were found for a number of varieties. The results demonstrate the capabilities of the Specim IQ camera for conducting hyperspectral analyses of plant objects.Broadening of the genetic diversity of donors of resistance to biotic environmental factors is a challenging problem concerning Triticum L., which can be solved by using wild relatives of wheat, in particular, Aegilops tauschii Coss., in breeding programs. This species, believed to be the donor of D genome of common wheat (T. aestivum L.), is a source of some traits important for breeding. This greatly facilitates the possibility of crossing Ae. tauschii with common wheat. Aegilops L. species are donors of effective genes for resistance to fungal diseases in wheat. For instance, genes that determine resistance to rust agents in common wheat were successfully introgressed from Ae. tauschii into the genome of T. aestivum L. The aim of our study was to identify differences in metabolomic profiles of Ae. tauschii forms (genotypes), resistant or susceptible to such fungal pathogens as Puccinia triticina f. sp. tritici and Erysiphe graminis f. sp. tritici. These indicators may be used as biochemical markers of resi, galactinol, stigmasterol, glycerol, azelaic and pyrogallic acids, campesterol, hydroquinone, etc., can be used for creating wheat and triticale cultivars with high resistance to fungal pathogens causing powdery mildew, brown rust, and yellow rust.Assessment of the genetic resources of chickpea (Cicer arietinum L.) in a zone that is atypical for its cultivation (eastern forest-steppe of Ukraine) gives an opportunity to identify valuable starting material for priority breeding areas. The article presents the results of a cluster analysis on chickpea accessions from the National Center for Plant Genetic Resources of Ukraine (NCPGRU) for a set of agronomic characteristics. In 2005-2017, 653 chickpea accessions from the NCPGRU's core collection were studied 369 kabuli accessions and 284 desi accessions. One hundred and fifty two sources of valuable traits were identified for 11 parameters drought tolerance, resistance to Ascochyta leaf and pod spot, early ripening (vegetation period length), yield, performance, number of productive pods and seed number per plant, response to nitrogenization, protein content, seed size, and cooking quality. These accessions (77 kabuli accessions are light-colored and 75 desi ones are dark-colored) were grouped by a set of valuable economic characteristics using cluster analysis with the Euclidean distance as a measure.