Редкие генетические варианты SYNPO2L при раннем инфаркте миокарда

Инфаркт миокарда (ИМ) является одной из самых распространенных причин смерти и инвалидизации взрослого населения. В настоящее время наблюдается рост заболеваемости ИМ в молодом возрасте. Независимым фактором риска ИМ в молодом возрасте является наследственная предрасположенность. В данной работе был проведен поиск редких генетических вариантов, связанных с развитием сердечно-сосудистых заболеваний, путём полноэкзомного секвенирования у 8 пациентов, перенесших ИМ до 45 лет, у которых на предыдущем этапе были исключены основные генетические факторы риска ИМ − моногенные дислипидемии и тромбофилия. У двух пациентов были выявлены патогенные варианты гена SYNPO2L: p.(Arg630Leu) (rs143723429) и не описанный ранее вариант p.(Arg910Gln). Полученные данные дают основание предполагать вовлеченность гена SYNPO2L, кодирующего белок сократительной мышечной функции, в патогенез раннего ИМ.

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