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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="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.02.14-30</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2608</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="ru"><subject>НАУЧНЫЙ ОБЗОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Моногенное ожирение: современные возможности таргетной терапии</article-title><trans-title-group xml:lang="en"><trans-title>Monogenic obesity: modern possibilities of targeted therapy</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хубаева</surname><given-names>Д. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Khubaeva</surname><given-names>D. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>119048, г. Москва, ул. Трубецкая, д. 8, стр. 2</p></bio><bio xml:lang="en"><p>8-2, Trubetskaya st., Moscow, 119991</p></bio><email xlink:type="simple">olofb@list.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Золина</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zolina</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>390026 г. Рязань, ул. Высоковольтная, д. 9</p></bio><bio xml:lang="en"><p>9, Vysokovol’tnaya street, Ryazan, 390026</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Юровских</surname><given-names>З. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Yurovskih</surname><given-names>Z. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>53012, г. Иваново, Шереметевский проспект, д. 8</p></bio><bio xml:lang="en"><p>8, Sheremetev avenue, Ivanovo, 153012</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дрождин</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Drozhdin</surname><given-names>M. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>454141, г. Челябинск, ул. Воровского, д. 64</p></bio><bio xml:lang="en"><p>64, Vorovskogo st., Chelyabinsk, 454092</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хакова</surname><given-names>С. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Khakova</surname><given-names>S. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>426034, г. Ижевск, ул. Коммунаров, д. 281</p></bio><bio xml:lang="en"><p>281, Kommunarov st., Izhevsk, 426056</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Качикеева</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kachikeeva</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>634050, г. Томск, Московский тракт, д. 2</p></bio><bio xml:lang="en"><p>2, Moskovsky trakt, 634050, Tomsk</p></bio><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснуллина</surname><given-names>А. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnullina</surname><given-names>A. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197022, г. Санкт-Петербург, ул. Льва Толстого, д. 6-8</p></bio><bio xml:lang="en"><p>6-8, L’va Tolstogo st., Saint Petersburg, 197022</p></bio><xref ref-type="aff" rid="aff-7"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ермаков</surname><given-names>И. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Ermakov</surname><given-names>I. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>53012, г. Иваново, Шереметевский проспект, д. 8</p></bio><bio xml:lang="en"><p>8, Sheremetev avenue, Ivanovo, 153012</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кулаков</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kulakov</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>127006, г. Москва, ул. Долгоруковская, д. 4</p></bio><bio xml:lang="en"><p>4, Dolgorukovskaya st., Moscow, 127006</p></bio><xref ref-type="aff" rid="aff-8"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Колесников</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kolesnikov</surname><given-names>M. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>150000, г. Ярославль, ул. Революционная, д. 5</p></bio><bio xml:lang="en"><p>5, Revolutionary st., Yaroslavl, 150000</p></bio><xref ref-type="aff" rid="aff-9"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Васильева</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasileva</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>53012, г. Иваново, Шереметевский проспект, д. 8</p></bio><bio xml:lang="en"><p>8, Sheremetev avenue, Ivanovo, 153012</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Петров</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Petrov</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>117513, г. Москва, ул. Островитянова, д. 1</p></bio><bio xml:lang="en"><p>1 bldg. 6, Ostrovityanova st., Moscow 117513</p></bio><xref ref-type="aff" rid="aff-10"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Юсупова</surname><given-names>А. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Yusupova</surname><given-names>A. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina st., Ufa, 450008</p></bio><xref ref-type="aff" rid="aff-11"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский университет)</institution><country>Россия</country></aff><aff xml:lang="en"><institution>I.M. Sechenov First Moscow State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Рязанский государственный медицинский университет им. акад. И.П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ryazan State Medical University named after academician I. P. Pavlov</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Ивановский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ivanovo State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Южно-Уральский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>South-Ural State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Ижевская государственная медицинская академия</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Izhevsk State Medical Academy</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>Сибирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Siberian State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-7"><aff xml:lang="ru"><institution>Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>I. P. Pavlov First St. Petersburg State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-8"><aff xml:lang="ru"><institution>Российский университет медицины</institution><country>Россия</country></aff><aff xml:lang="en"><institution>The Russian University of Medicine</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-9"><aff xml:lang="ru"><institution>Ярославский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Yaroslavl State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-10"><aff xml:lang="ru"><institution>Российский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский университет)</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N. I. Pirogov Russian National Research Medical University (Pirogov university)</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-11"><aff xml:lang="ru"><institution>ФГБОУ ВО Башкирский Государственный Медицинский Университет Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir state medical university</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>27</day><month>03</month><year>2025</year></pub-date><volume>24</volume><issue>2</issue><fpage>14</fpage><lpage>30</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Хубаева Д.Г., Золина А.А., Юровских З.Г., Дрождин М.А., Хакова С.Р., Качикеева Е.А., Хуснуллина А.Р., Ермаков И.С., Кулаков А.А., Колесников М.А., Васильева Д.В., Петров Д.А., Юсупова А.Ф., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Хубаева Д.Г., Золина А.А., Юровских З.Г., Дрождин М.А., Хакова С.Р., Качикеева Е.А., Хуснуллина А.Р., Ермаков И.С., Кулаков А.А., Колесников М.А., Васильева Д.В., Петров Д.А., Юсупова А.Ф.</copyright-holder><copyright-holder xml:lang="en">Khubaeva D.G., Zolina A.A., Yurovskih Z.G., Drozhdin M.A., Khakova S.R., Kachikeeva E.A., Khusnullina A.R., Ermakov I.S., Kulakov A.A., Kolesnikov M.A., Vasileva D.V., Petrov D.A., Yusupova A.F.</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://www.medgen-journal.ru/jour/article/view/2608">https://www.medgen-journal.ru/jour/article/view/2608</self-uri><abstract><p>Распространенность ожирения в Российской Федерации продолжает увеличиваться. Так, среди мужчин распространенность ожирения возросла с 10,8% в 1993 г. до 27,9% в 2017 г., среди женщин – с 26,4 до 31,8% соответственно. Крупномасштабные ресурсы генетических/геномных данных, а также объективные обзоры генетических/геномных вариантов в когортах людей с ранним развитием ожирения, особенно в инбредных популяциях, привели к выявлению и характеристике редких и распространенных генетических вариантов, ассоциированных с этим состоянием. Возрастающее понимание распространенности ожирения, вызванного редкими вариантами нуклеотидной последовательности, а также выявление новых генов, ассоциированных с моногенным ожирением, подчеркивают важность генетического анализа в оценке причины развития заболевания. Большинство из обсуждаемых в обзоре генов задействованы в системе выработки лептина и меланокортина, однако и гены, регулирующие адипогенез, могут оказать влияние на развитие ожирения. Особое внимание должно быть уделено генетическому тестированию людей с рано развившимся тяжелым ожирением, особенно когда оно сопровождается дисморфизмом, нарушениями развития нервной системы или другими системными отклонениями. В этих случаях тестирование может помочь в точной диагностике и понимании причин ожирения, что, в свою очередь, позволит разрабатывать более индивидуализированные стратегии лечения. Использование таких методов, как антисмысловые олигонуклеотиды и технологии редактирования генов, может значительно изменить подходы к лечению, сделав их более эффективными.</p></abstract><trans-abstract xml:lang="en"><p>The prevalence of obesity in the Russian Federation continues to increase. Thus, among men, the prevalence increased from 10.8% in 1993 to 27.9% in 2017, among women – from 26.4% to 31.8%, respectively. Large-scale resources of genetic/genomic data, as well as objective reviews of genetic/genomic variants in cohorts of people with early development of obesity, especially in inbred populations, have led to the identification and characterization of rare and common genetic variants associated with the development of obesity. The increasing understanding of the prevalence of obesity caused by rare variants of the nucleotide sequence, as well as the identification of new genes associated with monogenic obesity, emphasize the importance of genetic analysis in assessing the cause of the disease. Most of the genes discussed in the review are involved in the leptin and melanocortin production system, however, genes regulating adipogenesis can also influence the development of obesity. Special attention should be paid to genetic testing of people with earlyonset severe obesity, especially in cases where it is accompanied by dysmorphic disorder, disorders of the nervous system or other systemic abnormalities. This testing can help in the accurate diagnosis and understanding of the causes of obesity, which, in turn, will allow the development of more individualized treatment strategies. The use of methods such as antisense oligonucleotides and gene editing technologies can significantly change treatment approaches, making them more effective.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>ожирение</kwd><kwd>генетика</kwd><kwd>таргетная терапия</kwd><kwd>терапия</kwd><kwd>геном</kwd></kwd-group><kwd-group xml:lang="en"><kwd>obesity</kwd><kwd>genetics</kwd><kwd>targeted therapy</kwd><kwd>therapy</kwd><kwd>genome</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование не имело спонсорской поддержки. Поисково-аналитическая работа выполнена в рамках межвузовского взаимодействия по научному кружку «Медицинская генетика».</funding-statement><funding-statement xml:lang="en">The study had no sponsorship. The search and analytical work was carried out within the framework of interuniversity cooperation in the scientific community «Medical Genetics».</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">Алфёрова В.И., Мустафина С.В. Распространенность ожирения во взрослой популяции Российской Федерации (обзор литературы). Ожирение и метаболизм. 2022;19(1):96-105.</mixed-citation><mixed-citation xml:lang="en">Alferova V.I., Mustafina S.V. Rasprostranennost’ ozhireniya vo vzrosloy populyatsii Rossiyskoy Federatsii (obzor literatury) [The prevalence of obesity in the adult population of the Russian Federation (literature review)]. 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