КОНВЕНЦИОНАЛЬНЫЕ ПОДХОДЫ К ТЕРАПИИ НАСЛЕДСТВЕННЫХ МИОПАТИЙ

Цель. Проанализировать доступные терапевтические опции для конвенциональной терапии наследственных миопатий.

Материалы и методы. При поиске материала для написания обзорной статьи использовали такие реферативные базы данных, как PubMed и Google Scholar. Поиск осуществлялся по публикациям за период с 1980 г. по сентябрь 2022 г. Параметрами для отбора литературы были выбраны следующие слова и их сочетания: “myopathy”, “Duchenne”, “myodystrophy”, “metabolic”, “mitochondrial”, “congenital”, “symptoms”, “replacement”, “recombinant”, “corticosteroids”, “vitamins”, “tirasemtiv”, “therapy”, “treatment”, “evidence”, “clinical trials”, “patients”, “dichloracetate”.

Результаты. Врожденные миопатии представляют собой гетерогенную группу патологий, которые вызваны атрофией и дегенерацией мышечных волокон вследствие мутаций в генах. На основании ряда клинических и патогенетических особенностей наследственные миопатии разделяют на: 1) врожденные миопатии; 2) мышечные дистрофии; 3) митохондриальные и 4) метаболические миопатии. При этом, подходы к лечению значительно варьируют в зависимости от типа миопатии и могут быть основаны на 1) замещении мутантного белка; 2) увеличении его экспрессии 3) стимуляции экспрессии внутренних компенсаторных путей; 4) восстановлении баланса соединений, связанных с функцией мутантного белка (для ферментов); 5) воздействии на функцию митохондрий (при метаболических и митохондриальных миопатиях); 6) снижении воспаления и фиброза (при мышечных дистрофиях); а также на 7) увеличении мышечной массы и силы. В текущем обзоре представлены современные данные о каждом из перечисленных подходов, а также конкретные фармакологические агенты с описанием их механизмов действия.

Заключение. В настоящее время для лечения разных типов миопатий используются или проходят клинические исследования следующие фармакологические группы: инотропные, противовоспалительные и антифибротические препараты, антимиостатиновая терапия и препараты, способствующие трансляции через стоп-кодоны (применима при нонсенс-мутациях). Кроме того, для лечения миопатий могут быть применены метаболические препараты, кофакторы метаболических ферментов, стимуляторы митохондриального биогенеза и антиоксиданты. Наконец, клинически одобрены рекомбинантные препараты алглюкозидаза и авалглюкозидаза для заместительной терапии метаболических миопатий (болезнь Помпе).

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