Отсутствие влияния варианта p.Arg230His (rs749628307) в гене VCL на течение гипертрофической кардиомиопатии в русской семье носителей патогенного варианта p.Gln1233Ter (rs397516037) в гене MYBPC3

Цель    Определение специфических клинических характеристик, вызванных комбинацией патогенного варианта rs397516037 в гене миозинсвязывающего белка С (MYBPC3) и полиморфного варианта rs749628307 в гене белка винкулина (VCL), в русской семье носителей и значение вклада полиморфного варианта rs749628307 в гене VCL в развитие гипертрофической кардиомиопатии (ГКМП).

Материал и методы  Исследуемая семья включала одного здорового испытуемого и 3 пациентов с ГКМП. Осуществлен таргетный анализ экзома пробанда. Проведено структурное выравнивание обеих форм белка винкулина (VCL): канонической формы и несущей замену p.Arg230His.

Результаты   Патогенный вариант rs397516037 и потенциально патогенный вариант rs749628307 были обнаружены у пробанда и нескольких членов его семьи. Структурное выравнивание подтвердило, что вариант rs749628307 не изменяет значительно структуру белка и не может приводить к нарушению или утрате его функции.

Заключение     Результаты нашего исследования демонстрируют, что, вероятно, вариант rs749628307 в гене VCL не изменяет патогенетически значимо структуру белка, не влияет на тяжесть и форму клинических проявлений ГКМП и, следовательно, не может считаться патогенным.

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