Терапия муковисцидоза: от симптомов к причине заболевания

Муковисцидоз (МВ) – заболевание с широким клиническим и генетическим спектром проявлений, оказывающее значительное влияние на качество и продолжительность жизни пациента. В настоящее время диагностика МВ позволяет выявлять заболевание на самых ранних стадиях. Стремительное развитие науки и современные методы исследования изменили подходы в лечении МВ, начиная от симптоматического лечения до методов патогенетической терапии. Подходы патогенетической терапии направлены на поиск способов восстановления функции гена CFTR. Целью обзора стали анализ и обобщение имеющихся научных сведений о патогенетической терапии МВ. Рассмотрены подходы патогенетической терапии МВ на основе приема пациентами таргетных препаратов – CFTR-модуляторов. Приведены исследования с использованием методов генной терапии МВ, в основе которых лежит целенаправленная доставка нормальной копии кДНК гена CFTR в дыхательные пути с помощью вирусных или невирусных агентов. В некоторых исследованиях показано применение методов РНК-терапии для восстановления сплайсинга, продукции зрелой РНК и функционального белка CFTR. Также в обзоре проведен анализ литературных данных, в которых рассмотрены методы этиотропной терапии МВ, заключающейся в направленной коррекции гена CFTR с использованием искусственных ферментов рестрикции, системы CRISPR/Cas9 и комплекса пептидно-нуклеиновых кислот. В перспективном плане обсуждаются методы клеточной терапии в лечении поражения легких при муковисцидозе.

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