Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector106410.17816/ACEN.1064ReviewsОбзорыReview ArticleA Genetic Perspective on Ischemic Stroke: Recent Advances and Future DirectionsГенетические аспекты ишемического инсульта: последние достижения и направления исследованийhttps://orcid.org/0009-0008-5346-9597Chandra SekarPraveen Kumar
India

Chettinad Hospital and Research Institute, Dr. Sci (Med.), Human cytogenetics and genomics laboratory, Faculty of allied health sciences

Больница и научно-исследовательский институт Четтинада, д-р мед. наук, лаборатория цитогенетики и геномики человека, факультет смежных медицинских наук

rkgenes@gmail.comhttps://orcid.org/0000-0002-9307-5428VeerabathiranRamakrishnan
India

Chettinad Hospital and Research Institute, Cand. Sci (Med.), Human cytogenetics and genomics laboratory, Faculty of allied health sciences

Больница и научно-исследовательский институт Четтинада, канд. мед. наук, лаборатория цитогенетики и геномики человека, факультет смежных медицинских наук

rkgenes@gmail.comChettinad Academy of Research and EducationНаучно-образовательная академия Четтинада0612202418455672411202316042024Copyright ©; 2024, Chandra Sekar P., Veerabathiran R.Copyright ©; 2024, Chandra Sekar P., Veerabathiran R.2024Chandra Sekar P., Veerabathiran R.Chandra Sekar P., Veerabathiran R.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/1064

Objective. This narrative review aimed to explore the multifaceted nature of ischemic stroke (IS) and its underlying genetic factors, emphasize the role of genetics in early detection and prevention, and acknowledge the complex influences on stroke prevalence across various countries.

Methods. An extensive overview of the causes, mechanisms, and genetics of IS was conducted by reviewing several studies and recent findings. The role of specific genes in monogenic stroke disorders, implications of polygenic influences, recent advances in genetic evaluation, and methods for early IS detection were synthesized and discussed.

Results. IS was influenced by genetics, underlying medical conditions, and lifestyle. Specific genes, including NOTCH3, HTRA1, COL3A1, and mtDNA, are involved in monogenic stroke syndromes and predominantly affect younger populations. Polygenic disorders, studied using genome-wide association study and sequencing techniques, play a prominent role in susceptibility to IS. Genetic evaluation has become instrumental in risk prediction, influencing clinical practices and potential therapeutic interventions. Early detection methods, such as enhanced imaging techniques and blood biomarkers, are crucial for managing IS outcomes.

Conclusion. Ischemic stroke is a complex disorder with a significant global impact. Understanding its genetic basis promises to improve early detection and effectively establish preventative measures. Although genetic evaluation and innovative detection techniques offer promise, focusing on lifestyle modifications and managing underlying health conditions remains paramount for reducing the incidence and severity of IS. Continuous research and technological advancements are essential for developing personalized medical approaches and improving global healthcare strategies.

Цель данного нарративного обзора — описать многофакторность ишемического инсульта (ИИ) и генетические факторы его развития, подчеркнуть роль генетики в ранней диагностике и профилактике ИИ, а также осветить комплексное влияние на распространённость инсульта в разных странах.

Проведён обзор исследований и последних данных для всестороннего освещения причин, механизмов и генетических аспектов развития ИИ. В статье обобщаются и обсуждаются роль специфических генов в развитии моногенных заболеваний, связанных с ИИ, последствия полигенных заболеваний, последние достижения генетических исследований и методы ранней диагностики ИИ.

На развитие ИИ влияют генетические факторы, сопутствующие заболевания и образ жизни. Специфические гены (NOTCH3, HTRA1, COL3A1) и гены митохондриальной ДНК задействованы в моногенных заболеваниях, связанных с ИИ и поражающих преимущественно молодых людей. Полигенные заболевания, изученные посредством полногеномного поиска ассоциаций и секвенирования, играют важную роль в предрасположенности к развитию ИИ. Генетические исследования становятся эффективными инструментами прогнозирования рисков, влияя на клиническую практику и потенциальные терапевтические вмешательства. Такие методы ранней диагностики, как специализированные модальности нейровизуализации и исследование биомаркеров крови, играют ключевую роль в улучшении исходов ИИ.

Заключение. ИИ — комплексное заболевание, несущее значительное глобальное бремя. Понимание генетических факторов, влияющих на его развитие, поможет улучшить раннюю диагностику и эффективно внедрить профилактические меры. Несмотря на то что генетические исследования и инновационные методы диагностики вселяют надежду, коррекция образа жизни и лечение основных заболеваний сохраняют своё первостепенное значение в снижении частоты и тяжести ИИ. Непрерывная исследовательская деятельность и технологические достижения — ключ к разработке индивидуальных подходов к лечению и улучшению глобальных стратегий здравоохранения.

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