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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">nnp</journal-id><journal-title-group><journal-title xml:lang="en">Neurology, Neuropsychiatry, Psychosomatics</journal-title><trans-title-group xml:lang="ru"><trans-title>Неврология, нейропсихиатрия, психосоматика</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2074-2711</issn><issn pub-type="epub">2310-1342</issn><publisher><publisher-name>"IMA-Press", LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14412/2074-2711-2022-1S-16-20</article-id><article-id custom-type="elpub" pub-id-type="custom">nnp-1848</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL INVESTIGATIONS</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ И МЕТОДИКИ</subject></subj-group></article-categories><title-group><article-title>Reduced expression of the tumor necrosis factor gene in blood mononuclear cells in radiologically isolated syndrome – validation of transcriptome analysis results</article-title><trans-title-group xml:lang="ru"><trans-title>Снижение экспрессии гена фактора некроза опухоли в мононуклеарных клетках крови при радиологически изолированном синдроме – валидация результатов транскриптомного анализа</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6587-1243</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Козин</surname><given-names>М. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Kozin</surname><given-names>M. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Максим Сергеевич Козин </p><p>117997, Москва, ул. Островитянова, 1</p><p>121552, Москва, ул. 3-я Черепковская, 15а </p></bio><bio xml:lang="en"><p>Maxim Sergeevich Kozin </p><p>1, Ostrovityanova St., Moscow 117997</p><p>15A, Third Cherepkovskaya St., Moscow 121552 </p></bio><email xlink:type="simple">kozinmax1992@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8767-2958</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Баулина</surname><given-names>Н. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Baulina</surname><given-names>N. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3366-4113</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Киселев</surname><given-names>И. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Kiselev</surname><given-names>I. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0982-8520</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кабаева</surname><given-names>А. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Kabaeva</surname><given-names>A. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p><p>117997, Москва, ул. Островитянова, 1, стр. 10</p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p><p>1, Ostrovityanova St., Build. 10, Moscow 117997</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2975-4151</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бойко</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Boyko</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p><p>117997, Москва, ул. Островитянова, 1, стр. 10 </p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p><p>1, Ostrovityanova St., Build. 10, Moscow 117997 </p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5271-6698</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Фаворова</surname><given-names>О. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Favorova</surname><given-names>O. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5321-3101</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кулакова</surname><given-names>О. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Kulakova</surname><given-names>O. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>1, Ostrovityanova St., Moscow 117997</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России; ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; National Medical Research Center for Cardiology, Ministry of Health of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России; ФГБУ «Федеральный центр мозга и нейротехнологий» ФМБА России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center for Brain and Neurotechnologies, Federal Medical and Biological Agency of Russia</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>04</day><month>08</month><year>2022</year></pub-date><volume>14</volume><issue>1S</issue><issue-title>Спецвыпуск: рассеянный склероз</issue-title><fpage>16</fpage><lpage>20</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Kozin M.S., Baulina N.M., Kiselev I.S., Kabaeva A.R., Boyko A.N., Favorova O.O., Kulakova O.G., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Козин М.С., Баулина Н.М., Киселев И.С., Кабаева А.Р., Бойко А.Н., Фаворова О.О., Кулакова О.Г.</copyright-holder><copyright-holder xml:lang="en">Kozin M.S., Baulina N.M., Kiselev I.S., Kabaeva A.R., Boyko A.N., Favorova O.O., Kulakova O.G.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://nnp.ima-press.net/nnp/article/view/1848">https://nnp.ima-press.net/nnp/article/view/1848</self-uri><abstract><p>Radiologically isolated syndrome (RIS) is a nosological form in which magnetic resonance imaging (MRI) reveals lesions of the white matter of the brain and/or spinal cord characteristic of multiple sclerosis (MS) in individuals in the absence of clinical symptoms of the disease. Among the studies devoted to RIS, the number of works aimed at studying the molecular mechanisms underlying its formation is very small. Previously, using next generation sequencing (NGS), we for the first time revealed significant differences in the expression profiles of several genes in peripheral blood mononuclear cells (MNCs) of individuals with RIS and healthy controls.Objective: to conduct a validation analysis of changes in the expression of the CCR2, CX3CR1, and TNF genes that were observed during NGS in the MNCs of individuals with RIS compared with healthy individuals.Patients and methods. Analysis of the expression of the CCR2, CX3CR1, and TNF genes was performed on independent validation cohorts (in MNCs of 14 subjects with RIS and 14 without RIS) by reverse transcription followed by real-time PCR. Results and discussion. In MNCs of subjects with RIS, the TNF gene expression was significantly reduced compared to healthy controls (p=0.035; FC=0.78). No significant differences in expression levels were found for other genes.Conclusion. The obtained data shows that disturbances of TNF gene expression preceding the clinical manifestations of MS, at least in individuals with RIS, which can lead to further dysregulation of several processes.</p></abstract><trans-abstract xml:lang="ru"><p>Радиологически изолированный синдром (РИС) – нозологическая форма, при которой у индивидов при проведении магнитно-резонансной томографии (МРТ) обнаруживаются поражения белого вещества головного и/или спинного мозга, характерные для рассеянного склероза (РС), при отсутствии клинических симптомов заболевания. Среди исследований, посвященных РИС, число работ, направленных на изучение молекулярных механизмов, лежащих в основе его формирования, весьма мало. Ранее с помощью секвенирования нового поколения (next generation sequencing, NGS) мы впервые выявили значимые различия в профилях экспрессии ряда генов в мононуклеарных клетках (МНК) периферической крови лиц с РИС и здоровых обследованных, составивших контрольную группу.Цель исследования – провести валидационный анализ изменений экспресии генов CCR2, CX3CR1 и TNF, которые наблюдались при NGS в МНК лиц с РИС, по сравнению со здоровыми обследуемыми.Пациенты и методы. Анализ экспрессии генов CCR2, CX3CR1 и TNF проводили на независимых валидационных выборках (в МНК 14 человек с РИС и 14 – без РИС) методом обратной транскрипции с последующей полимеразной цепной реакцией в реальном времени.Результаты и обсуждение. В МНК обследованных с РИС значимо понижена экспрессия гена TNF по сравнению со здоровыми (р=0,035; FC=0,78). Для других генов значимых различий в уровнях экспрессии не обнаружено.Заключение. Полученные данные свидетельствуют о предшествующих клиническим проявлениям РС нарушениях экспрессии гена TNF, по меньшей мере у индивидов с РИС, что может приводить к дальнейшим нарушениям регуляции ряда процессов.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>радиологически изолированный синдром</kwd><kwd>рассеянный склероз</kwd><kwd>экспрессия генов</kwd><kwd>фактор некроза опухоли</kwd><kwd>ген TNF</kwd></kwd-group><kwd-group xml:lang="en"><kwd>radiologically isolated syndrome</kwd><kwd>multiple sclerosis</kwd><kwd>gene expression</kwd><kwd>tumor necrosis factor</kwd><kwd>TNF gene</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа поддержана грантом РФФИ № 20-015-00073.</funding-statement><funding-statement xml:lang="en">This work was supported by Russian Foundation for Basic Research grant № 20-015-00073.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Okuda DT, Mowry EM, Beheshtian A, et al. 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