近日,中南大學項榮教授和郭亞東教授團隊在《Frontiers in Cardiovascular Medicine》上發(fā)表題為“Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case”的文章。該文中,在一名死于擴張型心肌?。―CM)引起的心臟性猝死(SCD)的女性中發(fā)現(xiàn)了一個新的MYBPC3同義突變(NM_000256.3:c.24A>C,p.P8P),經(jīng)微小基因模型(minigene modeling)和免疫組化染色證實該變異可導致異常剪接,使MYBPC3表達降低,這是DCM和SCD的一個遺傳誘發(fā)因素。