Heart disease is the most frequent cause of death in the world and becomes more common with aging. Cardiomyopathies have been linked to changes in structural proteins, including intermediate filament (IF). IFs associate with the contractile machinery and costameres of striated muscle and with the intercalated disks in the heart. Synemin is a large IF protein that mediates the association of desmin with Z-disks and stabilizes intercalated disks. It acts as an A-kinase anchoring protein (AKAP). We used echocardiography, and immunofluorescence labeling to obtain the results. Here, we report that synemin-null (synm -/-) cardiac muscle shows left ventricular remodeling, contractile dysfunction, hypertrophy, and an increment of total body weight suggesting a mixed cardiomyopathy (dilated and hypertrophic) with a profound dilated phenotype. Data suggest that synemin plays an important regulatory role in the heart and that the consequences of its absence are profound.
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