Molecular diagnostics of hearing loss due to mutations in the SLC26A4 gene in indigenous peoples of Southern Siberia (Russia)

Poster (download) Valeriia Yuryevna Danilchenko1, Marina Vyacheslavovna Zytsar2, Marita Sergeevna Bady-Khoo3, Ekaterina Alexandrovna Maslova4, Olga Leonidovna Posukh51Federal Research Center Institute of Cytology and Genetics, danilchenko_valeri@mail.ru2Federal Research Center Institute of Cytology and Genetics, zytzar@bionet.nsc.ru3Perinatal Center of the Republic of Tyva, marita.badyhoo@mail.ru4Federal Research Center Institute of Cytology and Genetics; Novosibirsk State University, maslova@bionet.nsc.ru5Federal Research Center Institute of Cytology and Genetics; Novosibirsk State University, posukh@bionet.nsc.ru Establishing a genetic diagnosis of hearing loss is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Mutations in the SLC26A4 gene are a common cause of hearing loss in many regions of the world. This study presents the results of the first molecular genetic analysis of the SLC26A4 gene sequence performed in patients with hearing loss of unknown etiology belonging to indigenous peoples of Southern Siberia – Tuvinians (the Tyva Republic) and Altaians (the Altai Republic). Contrast differences of the SLC26A4 pathogenic contribution to the etiology of hearing impairment were revealed: 28.2% for Tuvinians and 4.3% for Altaians. Both known and novel pathogenic variants as well as a wide range of polymorphic variants were found in the SLC26A4 gene sequences of examined patients. High frequency of mutation c.919-2A>G in Tuvinians is probably due to the founder effect.

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Inflammation is associated with desynchronosis in the immune system (experimental study).

Poster (download) Abdalova A.M.1, Shurlygina A.V.2, Dergacheva T.I.3, Klimontov V.V.4, Letyagin A.Yu.51Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, arzuabd@mail.ru2Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, anna_v_s@mail.ru3Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, dr-tanja@yandex.ru4Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, klimontov@mail.ru5Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, letyagin-andrey@yandex.ru The circadian temporary organization of the dynamic processes occurring at the level of the cellular compartment of the immune system ensures their clear time sequence, the optimal ratio of cellular elements in organs and tissues at any given time/ Any pathological process leads to biorhythmological disorders of varying severity, which begin at the very early stages of the disease, when clinical signs are not yet manifested. However, in the literature there is very little information about the daily biorhythms of the immune system in violation of its functions, in particular, in the chronic inflammatory process. We found that with inflammation in the thymus, spleen and lymph nodes, the nature of the diurnal fluctuations in the content of large, medium and small lymphocytes, monocytes / macrophages, CD8 +, CD25 + cells changes. Thus, with the development of inflammation in the uterine mucosa in rats, desynchronosis in the immune system is observed. This allows us to talk about the need to take into account circadian rhythms in the diagnosis and treatment of inflammatory diseases.  

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The effect of round-the-clock illumination on blood hemoglobin level, body composition and endurance of C57Bl/6 mice

Poster (download) Irina Yurievna Ishchenko1, Svetlana Viktorovna Michurina2, Andrey Yurievich Letyagin3, Maxim Aleksandrovich Korolev4, Lyubov Nikiforovna Rachkovskaya5, Anna Stanislavovna Khotskina6, Nikita Valeryevich Khotskin7, Svetlana Olegovna Maslennikova8, Evgenii L. Zavjalov91Group of experimental pharmacology SRICEL – a branch of ICG SB RAS Novosibirsk, Russia, irenisch@mail.ru2Group of experimental pharmacology SRICEL – a branch of ICG SB RAS Novosibirsk, Russia, s.michurina@ngs.ru3Laboratory of pharmaceutical technologies SRICEL – a branch of ICG SB RAS, letyagin-andrey@yandex.ru4Laboratory of connective tissue pathology SRICEL – a branch of ICG SB RAS Novosibirsk, Russia, kormax@bk.ru5Laboratory of pharmaceutical technologies SRICEL – a branch of ICG SB RAS Novosibirsk, Russia, noolit@niikel.ru6Center of genetic resources of laboratory animals ICG SB RAS Novosibirsk, Russia, dotcenko@bionet.nsc.ru7Sector of genetic collections of neuropathologies ICG SB RAS Novosibirsk, Russia, shverter@mail.ru8Center of genetic resources of laboratory animals ICG SB RAS Novosibirsk, Russia, maslennikova@bionet.nsc.ru9Center of genetis resources of laboratory animals ICG SB RAS Novosibirsk, Russia, zavjalov@bionet.nsc.ru Введите абстрактную аннотацию ТОЛЬКО здесь Эффекты круглосуточного освещения были изучены РЅР° самцах мышей C57Bl / 6. Масса тела мышей увеличилась после РґРІСѓС… недель 24-часового освещения (24 часа). Р РѕСЃС‚ массы тела был отмечен Р·Р° счет увеличения мышечной массы. Уровень гемоглобина РІ РєСЂРѕРІРё снизился РІ конце эксперимента. РњС‹ обнаружили снижение общего времени зависания РЅР° 14-Р№ день эксперимента.

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THE EFFECT OF THE MELATONIN-CONTAINING PREPARATION ON THE HISTOLOGICAL STRUCTURE OF THE ORGANS OF THE IMMUNE SYSTEM OF MICE UNDER ROUND-THE-CLOCK ILLUMINATION

Poster (download) Shurlygina A.V1, Serykh A.E.2, Rachkovskaya L.N.3, Michurina S.V.4, Rachkovsky E.E.5, Letyagin A.Yu.61Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS., anna_v_s@mail.ru2Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, .Novosibirsk State University, rasiel1996@yandex.ru3Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, noolit@niikel.ru4Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, s.michurina@ngs.ru5Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, noolit@niikel.ru6Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics SB RAS, letyagin-andrey@yandex.ru In modern time person’s everyday life, the light regime is often disrupted. It entails a decrease in the synthesis of melatonin. Melatonin influences the differentiation of lymphocytes, the activity of inflammation, and the strength of the immune response. Study\’s purpose is the identification of histological features of the thymus and spleen of mice by means of oral administration of a new melatonin-containing preparation (Complex M) in conditions of light regime\’s disruption under round-the-clock illumination. In the experiment, we used mice with SPF status (inbred strain C57Bl / 6J), males, aged 10-12 weeks. It was shown that the introduction of Complex M reduces the relative size of spleen\’s white pulp, increases the size of the reactive centres, the marginal zone of the spleen follicles and venous vessels of the organ. In addition, the introduction of Complex M increases the cortical-brain index of the thymus, which may indicate This may be a sign of activation of immune functions, increased venous blood flow and stimulation of the central differentiation of T-lymphocytes.  

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Gene polymorphism IL13 in moderate-to-severe asthmatic Siberian children with different diseases control

Poster (download) Marina Smolnikova1, Nina Gorbacheva2, Marina Malinchik3, Sergey Tereshchenko41Scientific Research Institute of Medical Problems of the North FRC KSC SB RAS, smarinv@yandex.ru2Scientific Research Institute of Medical Problems of the North FRC KSC SB RAS, n-n-gorbacheva@yandex.ru3Scientific Research Institute of Medical Problems of the North FRC KSC SB RAS, seapearl1995@gmail.com4Scientific Research Institute of Medical Problems of the North FRC KSC SB RAS, legise@mail.ru Multifunctional cytokines, such as IL-13, play an important role in asthma pathogenesis. Several single nucleotide polymorphisms of cytokines are associated with asthma susceptibility in specific populations; however, further replicative studies in other ethnic groups are mandatory, especially with respect to asthma severity in children. Child with moderate-to-severe asthma were divided to patients uncontrolled course of the disease (n = 107) and controlled course of the disease (n = 95). The frequency of the CT genotype IL13 (rs1800925) in patients with controlled moderate-to-severe asthma was significantly higher in comparison with control (46,2% / 36,6%, OR 1,51, p=0,03). Was obtained statistically significant differences in the frequency of the TT genotype between the population sample (6,7%) and the group with uncontrolled asthma (15,5%, OR 1,65, p=0,03). The results have contributed to the data on the role of polymorphisms of IL-13 into the development of asthma in children as exemplified by a European population of East Siberia, Russia.

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The lithium effects on morphology and apoptosis in hepatocellular carcinoma cells

Poster (download) Iuliia Taskaeva1, Izabella Gogaeva2, Natalia Obanina3, Viktoriia Makarova4, Nataliya Bgatova51Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Laboratory of boron-neutron capture therapy, Department of Physics, Novosibirsk State University, inabrite@yandex.ru2Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Department of Natural Sciences, Novosibirsk State University, i.gogaeva@g.nsu.ru3Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Section of cytology and genetics, Department of Natural Sciences, Novosibirsk State University, n.obanina@g.nsu.ru4Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, shedina_vika@mail.ru5Laboratory of ultrastructural research, Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, n_bgatova@ngs.ru Hepatocellular carcinoma (HCC) is characterized dysregulation of cell death mechanisms, and the imbalance of pro- and anti-apoptotic signals. The development of HCC is accompanied by genetic mutations in the signaling pathways involved in the cell proliferation, growth and death. The molecular changes in apoptosis signaling in HCC determine the requirement for targeted chemotherapy to increasing apoptosis in HCC cells. The aim of this study was to assess the ability of lithium to influence on the hepatocellular carcinoma-29 (HCC-29) cells apoptosis in vivo. Light and transmission electron microscopy, and immunofluorescence staining were used to evaluate of apoptosis development in HCC-29 cells after administration of 20 mM lithium carbonate. It was revealed that lithium extremely increased the pro-apoptotic proteins Bad and caspase-3 expression, and decreased the anti-apoptotic protein Bcl-2 expression. These results indicate that lithium carbonate induces apoptosis pathways in HCC-29 cells. Lithium administration can enhance pro-apoptotic chemotherapeutic drugs potential and overcome the resistance of tumor cells to apoptosis in HCC.

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Generation of the panel of transgenic human cell lines with stable expression of mutant variants of the GJB2 gene associated with hearing loss for comparative in vitro studies

Poster (download) Ekaterina Alexandrovna Maslova1, Marina Vyacheslavovna Zytsar2, Valeriia Yuryevna Danilchenko3, Olga Leonidovna Posukh4, Konstantin Evgenyevich Orishchenko51Federal Research Center Institute of Cytology and Genetics, Novosibirsk State University, Novosibirsk, Russian Federation, maslova@bionet.nsc.ru2Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation, zytzar@bionet.nsc.ru3Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russian Federation, danilchenko_valeri@mail.ru4Federal Research Center Institute of Cytology and Genetics, Novosibirsk State University, Novosibirsk, Russian Federation, posukh@bionet.nsc.ru5Federal Research Center Institute of Cytology and Genetics, Novosibirsk State University, Novosibirsk, Russian Federation, OrishchenkoKE@icg.sbras.ru Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases, and comprehensive evidences, including functional in vitro studies, are necessary to support their involving in pathology. Mutations in the GJB2 gene encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. About 400 pathogenic and also not yet classified variants with ambiguous functional significance are described in the GJB2 gene sequence. In this study, for the first time, the panel of transgenic HeLa cell lines stably expressing of different GJB2 variants was generated for subsequent comparative analysis of structure and functioning of the Cx26 protein. This panel was successfully applied for confirmation of the pathogenicity of novel GJB2 missense variant c.516G>C (p.Trp172Cys) found with high frequency in deaf patients from Southern Siberia.

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Nonvascular pathways of aqueous humor outflow in the choroid of the human eye

Poster (download) Sabina Nogovitsina11Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, nogovitsina.niikel@gmail.com The structural organization of lymphatic-like channels in the human eye choroid was studied by using immunohistochemistry and transmission electron microscopy. It was shown that these channels lining fibroblast-like cells that express markers of lymphatic endothelium.

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Human Dermal Fibroblasts and Bone-Marrow Mesenchymal Stem Cells properties under Silver and Lithium Condition

Poster (download) Alexander Lykov1, Lubov Rachkovskaya2, Olga Poveshchenko3, Maria Surovtseva4, Irina Kim5, Edmund Rachkovsky6, Alena Philippova71Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, aplykov2@mail.ru2Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, lymphology@niikel.ru3Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, poveschenkoov@yandex.ru4Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, mfelde@ngs.ru5Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, kii5@yandex.ru6Research Institute of Clinical ans Experimental Lymphology- Branch of the Institute of Cytology and Genetics SB RAS, lymphology@niikel.ru7Municipal autonomous educational institution Education center Gornostay, alena.philippova2003@yandex.ru Fibroblasts and mesenchymal stem cells are involved in damaged skin repair. Functional activity of the fibroblasts mesenchymal stem cells depends from environment, including antimicrobial preparations. Silver salts are one of the antimicrobial substances. Lithium salts exhibit not only a stabilizing effect on human mental responses, but also antitumor and autophagic effects. The “Bodyguard” hygienic composition contains both silver and lithium. The aim of the study was to study the effect of bound silver and lithium ions in the \”Bodyguard\” composition and in salt of silver nitrate and lithium of citric acid on human dermal fibroblasts (DFs) and bone-marrow mesenchymal stem cells (MSCs) functions. It has been shown that DFs in the presence of \”Bodyguard\” reduces proliferative activity and significantly increases care in apoptosis. At the same time, silver and lithium ions alone or in combination do not affect proliferation, enhance migration and reduce DFs apoptosis. It has been shown that MSCs proliferation increased under “Bodyguard” condition. Whereas, silver ions and lithium ions not have any effect on proliferation of MSCs, but influenced on myeloperoxidase activity, nitric oxide production, migration, and apoptosis. The more pronounced negative action of the “Bodyguard” is most likely due not to silver and lithium ions, but to the very structure of the carrier to which these ions are immobilized.

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Computational prediction of miRNA binding sites in mRNA of colorectal cancer candidate genes

Aigul Akimniyazova11SRI of Biology and Biotechnology problems, al-Farabi Kazakh National University, akimniyazova@gmail.com The identification of causative miRNAs in colorectal cancer is unclear due to a lack of understanding of how specific miRNAs affect biological pathways and consequences of disease development. The miRNA is a class of nano-sized non-coding RNAs that regulate many mRNAs, and mRNA can be related to many miRNAs, which make them suitable for diagnosis purposes. Therefore it is required to identify candidate genes of colorectal cancer and to what extent they can interact with miRNA. To determine the important miRNAs biding sites in genes, involved in the development of colorectal cancer, there were used the MirTarget program. The paper presents the results of studying the characteristics of the interaction of miRNAs with mRNAs of 135 candidate genes involved in the development of colorectal cancer. The binding sites of 446 miRNAs have in 113 mRNA of genes at 5\’UTR, CDS, and 3\’UTR. Found miRNA binding sites with overlapped nucleotide sequences (clusters). The research results are useful for the development of methods for early diagnosis of this disease.

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