arthyperАртериальная гипертензия"Arterial’naya Gipertenziya" ("Arterial Hypertension")1607-419X2411-8524Antihypertensive League10.18705/1607-419X-2009-15-2-223-226arthyper-1346Research ArticleОБЗОРREVIEWTGF-beta-зависимый патогенез синдрома Марфана и родственных наследственных нарушений соединительной тканиTGF-beta-dependent mechanisms of patho genesis of Marfan syndrome and related disordersРудойА. С.RudoyA. S.andrej-rudoj@yandex.ruГУ «432 ордена Красной Звезды главный военный клинический медицинский центр Вооруженных Сил Республики Беларусь»РоссияPublic institution «432 awards of the Red Star the main clinical medical military center of the Armed Forces of the Republic of Belarus»Russian Federation200928042009152223226Copyright © Рудой А.С., 20092009Рудой А.С.Rudoy A.S.This work is licensed under a Creative Commons Attribution 4.0 License.https://htn.almazovcentre.ru/jour/article/view/1346

Современные открытия молекулярной физиологии фибриллина и патофизиологии синдрома Марфана (СМ) и родственных нарушений соединительной ткани изменили наше понимание этих состояний, продемонстрировав изменение сигнальной активности ростовых факторов и матрично-клеточного взаимодействия. Одной из причин СМ - аутосомно-доминантного заболевания соединительной ткани - являются мутации в гене фибриллина-1, аномалия которого способствует избыточной активации трансформирующего ростового фактора-ß (TGF-ß). Увеличенная активность TGF-Я может способствовать мультисистемному проявлению патологического процесса, включая развитие миксоматозных изменений атриовентрикулярных клапанов, аневризмы и расслоения аорты, гипермобильности суставов. Предполагается, что анти-TGF-β терапевтическая стратегия способна предотвратить опасные для жизни проявления этих нарушений соединительной ткани.

Recent research on the molecular physiology of fibrillin and the pathophysiology of Marfan syndrome and related connective tissue disorders has changed our understanding of this pathology by demonstrating changes in growth factor signalling and in matrix-cell interactions. Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1. Fibrillin-1 contributes to the regulated activation of the cytokine TGF-ß, and enhanced signaling is a consequence of fibrillin-1 deficiency. Thereby, increased TGF-ß signaling may contribute to the multisystem pathogenesis of Marfan syndrome, including the development of myxomatous changes of the atrioventricular valve, aortic aneurysm and dissection, joint hypermobility syndrome. These data suggest that anti-TGF-β therapeutic strategy for patients with Marfan syndrome can be useful in prevention of the major life-threatening manifestation of this disorder.

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The authors declare that there are no conflicts of interest present.