Кардиомиопатии, вызванные патогенными вариантами в гене DMD

DMD – ген, расположенный на хромосоме Х и отвечающий за образование белка дистрофина. Патогенные варианты в гене DMD вызывают такие заболевания, как мышечная дистрофия Дюшенна (МДД) и мышечная дистрофия Беккера (МДБ). Миодистрофия Дюшенна характеризуется прогрессирующей мышечной слабостью, приводящей к утрате двигательных и дыхательных функций, а также к кардиомиопатии и прогрессирующей сердечной недостаточности из‑за полного отсутствия дистрофина в организме. У пациентов с МДБ синтезируется сниженное количество дистрофина, это отличает ее от МДД более мягкой клиникой и поздним возрастом начала. Кардиомиопатии являются частым и в некоторых случаях основным проявлением данных патологий. В настоящем обзоре проанализирован ряд исследований, посвященных заболеваниям, связанными с дистрофинопатиями, при которых главным симптомом является поражение сердца – кардиомиопатия, а также приведена информация о современных подходах генной и таргетной терапии данных заболеваний.

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